[ { "uniprot_canonical_ac": "Q9V396-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 270, "chemical_mass": 29953.0, "gene_names": "CAH1;BG:DS00941.1;CAH1;CAH;CG7820;Dmel\\CG7820;Dmel_CG7820;Gh7", "protein_name": "Carbonic anhydrase", "disease": [ { "disease_id": "DOID:0040091", "name": "autoimmune pancreatitis", "description": "An autoimmune disease of endocrine system that is located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:0040091", "evidence": [ { "id": "0040091", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0040091" } ], "weight": 0.0 }, { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:0110941", "name": "autosomal recessive osteopetrosis 3", "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.", "url": "https://disease-ontology.org/term/DOID:0110941", "evidence": [ { "id": "0110941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110941" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12528", "name": "lesion of sciatic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:12528", "evidence": [ { "id": "12528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12528" } ], "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:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1884", "name": "viral hepatitis", "description": "A hepatitis that involves viral infection causing inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:1884", "evidence": [ { "id": "1884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1884" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "pmid": "" } ], "biological_process": [ { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "Q9V396", "url": "https://www.uniprot.org/uniprotkb/Q9V396" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V396-1" }, { "uniprot_canonical_ac": "Q9V3A8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 512, "chemical_mass": 57568.0, "gene_names": "ergic53;CG6822;Dmel\\CG6822;Dmel_CG6822;ERGIC53;dERGIC53;dergic53;ergic53;l(3)S1760;l(3)s1760", "protein_name": "", "disease": [ { "disease_id": "DOID:2211", "name": "factor XIII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.", "url": "https://disease-ontology.org/term/DOID:2211", "evidence": [ { "id": "2211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2211" } ], "weight": 0.0 }, { "disease_id": "DOID:2216", "name": "factor V deficiency", "description": "", "url": "https://disease-ontology.org/term/DOID:2216", "evidence": [ { "id": "2216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2216" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" } ], "molecular_function": [ { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A8", "url": "https://www.uniprot.org/uniprotkb/Q9V3A8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V3A8-1" }, { "uniprot_canonical_ac": "Q9V3A9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3A9", "url": "https://www.uniprot.org/uniprotkb/Q9V3A9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 281, "chemical_mass": 31586.0, "gene_names": "Dmel\\CG4218;BG:DS04641.8;CG4218;Dmel\\CG4218;Dmel_CG4218;anon-SAGE:Wang-118;anon-SAGE:Wang-133", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V3A9-1" }, { "uniprot_canonical_ac": "Q9V3C4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1028, "chemical_mass": 116508.0, "gene_names": "Gem3;BcDNA.LD05563;BcDNA:LD05563;CG6539;DHH1;Dhh1;DmRH22;Dmel\\CG6539;GEMIN3;Gem3;dGem3;gemin3;l(3)rL562", "protein_name": "DEAD-box RNA helicase gemin3", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "Gemini of Cajal bodies", "id": "GO:0097504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097504", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "cytoplasmic U snRNP body", "id": "GO:0071254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071254", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "protein-RNA complex assembly", "id": "GO:0022618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022618", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" }, { "name": "flight behavior", "id": "GO:0007629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007629", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C4", "url": "https://www.uniprot.org/uniprotkb/Q9V3C4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V3C4-1" }, { "uniprot_canonical_ac": "Q9V3G8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3G8", "url": "https://www.uniprot.org/uniprotkb/Q9V3G8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 373, "chemical_mass": 43004.0, "gene_names": "Vajk1;BG:DS00180.2;CG16886;Dmel\\CG16886;Dmel_CG16886;Vajk1;vajk-1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G8", "url": "https://www.uniprot.org/uniprotkb/Q9V3G8" } ], "pmid": "" }, { "name": "structural constituent of chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G8", "url": "https://www.uniprot.org/uniprotkb/Q9V3G8" } ], "pmid": "" } ], "biological_process": [ { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G8", "url": "https://www.uniprot.org/uniprotkb/Q9V3G8" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9V3G8", "url": "https://www.uniprot.org/uniprotkb/Q9V3G8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], 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"evidence": [ { "database": "UniProtKB", "id": "Q9V4A1", "url": "https://www.uniprot.org/uniprotkb/Q9V4A1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9V4A1", "url": "https://www.uniprot.org/uniprotkb/Q9V4A1" } ], "pmid": "" }, { "name": "anterograde dendritic transport of neurotransmitter receptor complex", "id": "GO:0098971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098971", "evidence": [ { "database": "UniProtKB", "id": "Q9V4A1", "url": "https://www.uniprot.org/uniprotkb/Q9V4A1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V4A1-1" }, { "uniprot_canonical_ac": "Q9V4E0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V4E0", "url": "https://www.uniprot.org/uniprotkb/Q9V4E0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 468, "chemical_mass": 52921.0, "gene_names": "ND-49;CG 1970;CG1970;Dmel\\CG1970;Dmel_CG1970;ND-49;NDUFS2;NUCM;Ndufs2;dNDUFS2A;dNDUFS2", "protein_name": "Complex I-49kD", "disease": [ { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.", "url": "https://disease-ontology.org/term/DOID:0060536", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ], "weight": 0.0 }, { "disease_id": "DOID:0112066", "name": "nuclear type mitochondrial complex I deficiency 6", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0112066", "evidence": [ { "id": "0112066", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112066" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E0", "url": 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"https://www.uniprot.org/uniprotkb/Q9V4E0" } ], "pmid": "" }, { "name": "quinone binding", "id": "GO:0048038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048038", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E0", "url": "https://www.uniprot.org/uniprotkb/Q9V4E0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H", "id": "GO:0016651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016651", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E0", "url": "https://www.uniprot.org/uniprotkb/Q9V4E0" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E0", "url": "https://www.uniprot.org/uniprotkb/Q9V4E0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V4E0-1" }, { "uniprot_canonical_ac": "Q9V4E6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 701, "chemical_mass": 81128.0, "gene_names": "mav;CG1901;DmMav;Dmel\\CG1901;Dmel_CG1901;MAV;Mav;TGF-b;mav", "protein_name": "", "disease": [ { "disease_id": "DOID:758", "name": "visceral heterotaxy 5", "description": "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:758", "evidence": [ { "id": "758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:758" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" } ], "biological_process": [ { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular junction development", "id": "GO:1904398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904398", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" }, { "name": "regulation of imaginal disc-derived wing size", "id": "GO:0044719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044719", "evidence": [ { "database": "UniProtKB", "id": "Q9V4E6", "url": "https://www.uniprot.org/uniprotkb/Q9V4E6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V4E6-1" }, { "uniprot_canonical_ac": "Q9V9Q4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9V9Q4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 354, "chemical_mass": 40154.0, "gene_names": "Dmel\\CG1416;Aha1;CG1416;Dmel\\CG1416;Dmel_CG1416", "protein_name": "Activator of Hsp90 ATPase AHSA1-like N-terminal domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9V9Q4" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9V9Q4" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9V9Q4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9V9Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9Q4-1" }, { "uniprot_canonical_ac": "Q9V9S0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 318, "chemical_mass": 34824.0, "gene_names": "Lamp1;CG3305;Dmel\\CG3305;Dmel_CG3305;LAMP1;LAMP;Lamp-1;Lamp1;Lamp;dLAMP;dLamp;lamp1", "protein_name": "Lysosome-associated membrane glycoprotein 5", "disease": [ { "disease_id": "DOID:0050437", "name": "Danon disease", "description": "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual 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"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: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: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:2475", "name": "chronic conjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2475", "evidence": [ { "id": "2475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2475" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "growth cone membrane", "id": "GO:0032584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032584", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" } ], "biological_process": [ { "name": "establishment of protein localization to organelle", "id": "GO:0072594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072594", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" }, { "name": "lipophagy", "id": "GO:0061724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061724", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S0", "url": "https://www.uniprot.org/uniprotkb/Q9V9S0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9S0-1" }, { "uniprot_canonical_ac": "Q9V9S3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S3", "url": "https://www.uniprot.org/uniprotkb/Q9V9S3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 298, "chemical_mass": 33942.0, "gene_names": "Pos;CG2053;Dmel\\CG2053;Dmel_CG2053;Pose;Pos", "protein_name": "CCR4-NOT transcription complex subunit 9", "disease": [], "cellular_component": [ { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S3", "url": "https://www.uniprot.org/uniprotkb/Q9V9S3" } ], "pmid": "" }, { "name": "CCR4-NOT core complex", "id": "GO:0030015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030015", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S3", "url": "https://www.uniprot.org/uniprotkb/Q9V9S3" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S3", "url": "https://www.uniprot.org/uniprotkb/Q9V9S3" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S3", "url": "https://www.uniprot.org/uniprotkb/Q9V9S3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9S3-1" }, { "uniprot_canonical_ac": "Q9V9S9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S9", "url": "https://www.uniprot.org/uniprotkb/Q9V9S9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 487, "chemical_mass": 52493.0, "gene_names": "Rift;CG11576;Dmel\\CG11576;Dmel_CG11576;Rift;cg11576;drift", "protein_name": "Riboflavin transporter", "disease": [ { "disease_id": "DOID:0050694", "name": "Brown-Vialetto-Van Laere syndrome", "description": "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.", "url": "https://disease-ontology.org/term/DOID:0050694", "evidence": [ { "id": "0050694", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050694" } ], "weight": 0.0 }, { "disease_id": "DOID:0080632", "name": "Fazio-Londe disease", "description": "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:0080632", "evidence": [ { "id": "0080632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080632" } ], "weight": 0.0 }, { "disease_id": "DOID:0080785", "name": "Brown-Vialetto-Van Laere syndrome 1", "description": "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:0080785", "evidence": [ { "id": "0080785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080785" } ], "weight": 0.0 }, { "disease_id": "DOID:0080786", "name": "Brown-Vialetto-Van Laere syndrome 2", "description": "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0080786", "evidence": [ { "id": "0080786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080786" } ], "weight": 0.0 }, { "disease_id": "DOID:8454", "name": "riboflavin deficiency", "description": "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.", "url": "https://disease-ontology.org/term/DOID:8454", "evidence": [ { "id": "8454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8454" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S9", "url": "https://www.uniprot.org/uniprotkb/Q9V9S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "riboflavin transmembrane transporter activity", "id": "GO:0032217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032217", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S9", "url": "https://www.uniprot.org/uniprotkb/Q9V9S9" } ], "pmid": "" } ], "biological_process": [ { "name": "riboflavin transport", "id": "GO:0032218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032218", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S9", "url": "https://www.uniprot.org/uniprotkb/Q9V9S9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9S9-1" }, { "uniprot_canonical_ac": "Q9V9T9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 686, "chemical_mass": 79302.0, "gene_names": "betaGlu;CG2135;Dmel\\CG2135;Dmel_CG2135;Glc;Glu;beta-GUS;betaGlu;gus", "protein_name": "Beta-glucuronidase", "disease": [ { "disease_id": "DOID:12798", "name": "mucopolysaccharidosis", "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.", "url": "https://disease-ontology.org/term/DOID:12798", "evidence": [ { "id": "12798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12798" } ], "weight": 0.0 }, { "disease_id": "DOID:12803", "name": "mucopolysaccharidosis type VII", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.", "url": "https://disease-ontology.org/term/DOID:12803", "evidence": [ { "id": "12803", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12803" } ], "weight": 0.0 }, { "disease_id": 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Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan catabolic process", "id": "GO:0030207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030207", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan catabolic process", "id": "GO:0030200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030200", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" }, { "name": "beta-glucuronidase activity", "id": "GO:0004566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004566", "evidence": [ { "database": "UniProtKB", "id": "Q9V9T9", "url": "https://www.uniprot.org/uniprotkb/Q9V9T9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9T9-1" }, { "uniprot_canonical_ac": "Q9V9U0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9U0", "url": "https://www.uniprot.org/uniprotkb/Q9V9U0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 188, "chemical_mass": 17477.0, "gene_names": "GCR1;CG2150;Dmel\\CG2150;Dmel_CG2150;GCR 1;GCR-1;GCR1;Pen100DE;anon-Pen100DE;pen100DE", "protein_name": "", "disease": [], "molecular_function": [ { "name": "structural constituent of chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": "UniProtKB", "id": "Q9V9U0", "url": "https://www.uniprot.org/uniprotkb/Q9V9U0" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9V9U0", "url": "https://www.uniprot.org/uniprotkb/Q9V9U0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9U0-1" }, { "uniprot_canonical_ac": "Q9V9U2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9U2", "url": "https://www.uniprot.org/uniprotkb/Q9V9U2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 622, "chemical_mass": 68208.0, "gene_names": "salt;CG2196;Dmel\\CG2196;Dmel_CG2196;dSLC5A7;salt", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9V9U7", "url": "https://www.uniprot.org/uniprotkb/Q9V9U7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9U7-1" }, { "uniprot_canonical_ac": "Q9V9V8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9V8", "url": "https://www.uniprot.org/uniprotkb/Q9V9V8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 42097.0, "gene_names": "Dmel\\CG1792;CG1792;Dmel\\CG1792;Dmel_CG1792", "protein_name": "Transcription factor Ouib", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V8", "url": "https://www.uniprot.org/uniprotkb/Q9V9V8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V8", "url": "https://www.uniprot.org/uniprotkb/Q9V9V8" } ], "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": "Q9V9V8", "url": "https://www.uniprot.org/uniprotkb/Q9V9V8" } ], "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": "Q9V9V8", "url": "https://www.uniprot.org/uniprotkb/Q9V9V8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V8", "url": 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melanogaster [7227]" } ], "length": 356, "chemical_mass": 40957.0, "gene_names": "Dmel\\CG12069;CG12069;Dmel\\CG12069;Dmel_CG12069;Pka-like", "protein_name": "", "disease": [ { "disease_id": "DOID:0050891", "name": "adrenal cortical adenoma", "description": "An adrenal adenoma that is a benign tumor of the adrenal cortex.", "url": "https://disease-ontology.org/term/DOID:0050891", "evidence": [ { "id": "0050891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050891" } ], "weight": 0.0 }, { "disease_id": "DOID:0070549", "name": "primary pigmented nodular adrenocortical disease 4", "description": "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene.", "url": "https://disease-ontology.org/term/DOID:0070549", "evidence": [ { "id": "0070549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070549" } ], "weight": 0.0 }, { "disease_id": "DOID:0111048", "name": "platelet-type bleeding disorder 19", "description": "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.", "url": "https://disease-ontology.org/term/DOID:0111048", "evidence": [ { "id": "0111048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111048" } ], "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:5015", "name": "fibrolamellar carcinoma", "description": "A 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VA52-1" }, { "uniprot_canonical_ac": "Q9VA80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VA80", "url": "https://www.uniprot.org/uniprotkb/Q9VA80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 188, "chemical_mass": 20977.0, "gene_names": "Dmel\\CG15536;CG15536;Dmel\\CG15536;Dmel_CG15536", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VA80-1" }, { "uniprot_canonical_ac": "Q9VA86-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VA86", "url": "https://www.uniprot.org/uniprotkb/Q9VA86" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 463, "chemical_mass": 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], "pmid": "" }, { "name": "superoxide dismutase activity", "id": "GO:0004784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004784", "evidence": [ { "database": "UniProtKB", "id": "Q9VA99", "url": "https://www.uniprot.org/uniprotkb/Q9VA99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VA99-1" }, { "uniprot_canonical_ac": "Q9VAB8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": "https://www.uniprot.org/uniprotkb/Q9VAB8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 457, "chemical_mass": 53091.0, "gene_names": "ZIPIC;CG7928;Dmel\\CG7928;ZIPIC", "protein_name": "Zinc finger protein ZIPIC", "disease": [], "molecular_function": [ { "name": "chromatin insulator sequence binding", "id": "GO:0043035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043035", "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": "https://www.uniprot.org/uniprotkb/Q9VAB8" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": "https://www.uniprot.org/uniprotkb/Q9VAB8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": "https://www.uniprot.org/uniprotkb/Q9VAB8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": "https://www.uniprot.org/uniprotkb/Q9VAB8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VAB8", "url": 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characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0081097", "evidence": [ { "id": "0081097", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081097" } ], "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": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" }, { "name": "endoplasmic reticulum N-glycan trimming", "id": "GO:0140277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140277", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" }, { "name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "id": "GO:0004571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004571", "evidence": [ { "database": "UniProtKB", "id": "Q9VAP8", "url": "https://www.uniprot.org/uniprotkb/Q9VAP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAP8-1" }, { "uniprot_canonical_ac": "Q9VAQ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 35562.0, "gene_names": "SP68;CG11842;Dmel\\CG11842;Dmel_CG11842;SP68", "protein_name": "Peptidase S1 domain-containing protein", "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: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: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 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAQ3-1" }, { "uniprot_canonical_ac": "Q9VAU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAU4", "url": "https://www.uniprot.org/uniprotkb/Q9VAU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 668, "chemical_mass": 77170.0, "gene_names": "Dmel\\CG9988;CG9988;Dmel\\CG9988;Dmel_CG9988;gi23172514", "protein_name": "DUF229 domain containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAU4-1" }, { "uniprot_canonical_ac": "Q9VAV2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 696, "chemical_mass": 76789.0, "gene_names": "mIF2;CG12413;Dmel\\CG12413;Dmel_CG12413;mIF2", "protein_name": "", "disease": [], "biological_process": [ { "name": "mitochondrial translational initiation", "id": "GO:0070124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070124", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "formation of translation preinitiation complex", "id": "GO:0001731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001731", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VAV2", "url": "https://www.uniprot.org/uniprotkb/Q9VAV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAV2-1" }, { "uniprot_canonical_ac": "Q9VAW6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAW6", "url": "https://www.uniprot.org/uniprotkb/Q9VAW6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 300, "chemical_mass": 34186.0, "gene_names": "Dmel\\CG12516;CG12516;Dmel\\CG12516;Dmel_CG12516", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAW6-1" }, { "uniprot_canonical_ac": "Q9VAX8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 975, "chemical_mass": 110650.0, "gene_names": "Dmel\\CG4849;CG4849;Dmel\\CG4849;Dmel_CG4849;EFTUD2;Snu114;eEF2;eftud2", "protein_name": "116 kDa U5 small nuclear ribonucleoprotein component", "disease": [ { "disease_id": "DOID:0080196", "name": "mandibulofacial dysostosis, Guion-Almeida type", "description": "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0080196", "evidence": [ { "id": "0080196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080196" } ], "weight": 0.0 }, { "disease_id": "DOID:10485", "name": "esophageal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10485", "evidence": [ { "id": "10485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10485" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "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:2908", "name": "Treacher Collins syndrome", "description": "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.", "url": "https://disease-ontology.org/term/DOID:2908", "evidence": [ { "id": "2908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2908" } ], "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 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "translation elongation factor activity", "id": "GO:0003746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003746", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "U5 snRNA binding", "id": "GO:0030623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030623", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "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": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "small nuclear ribonucleoprotein complex", "id": "GO:0030532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030532", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "U5 snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": "https://www.uniprot.org/uniprotkb/Q9VAX8" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q9VAX8", "url": 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extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.", "url": "https://disease-ontology.org/term/DOID:0080738", "evidence": [ { "id": "0080738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080738" } ], "weight": 0.0 }, { "disease_id": "DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. 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"" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VC58", "url": "https://www.uniprot.org/uniprotkb/Q9VC58" } ], "pmid": "" }, { "name": "regulation of vesicle-mediated transport", "id": "GO:0060627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060627", "evidence": [ { "database": "UniProtKB", "id": "Q9VC58", "url": "https://www.uniprot.org/uniprotkb/Q9VC58" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VC58", "url": "https://www.uniprot.org/uniprotkb/Q9VC58" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "Q9VC58", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VDI6", "url": "https://www.uniprot.org/uniprotkb/Q9VDI6" } ], "pmid": "" } ], "biological_process": [ { "name": "sterol biosynthetic process", "id": "GO:0016126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016126", "evidence": [ { "database": "UniProtKB", "id": "Q9VDI6", "url": "https://www.uniprot.org/uniprotkb/Q9VDI6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDI6-1" }, { "uniprot_canonical_ac": "Q9VDJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 263, "chemical_mass": 24054.0, "gene_names": "Dmel\\CG4000;CG4000;Dmel\\CG4000;Dmel_CG4000", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDJ7-1" }, { "uniprot_canonical_ac": "Q9VDN6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDN6", "url": "https://www.uniprot.org/uniprotkb/Q9VDN6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 233, "chemical_mass": 25145.0, "gene_names": "Dmel\\CG4362;CG4362;Dmel\\CG4362;Dmel_CG4362", "protein_name": "Chitin-binding type-4 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VDN6-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ser84", "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", 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"name": "imaginal disc-derived wing margin morphogenesis", "id": "GO:0008587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008587", "evidence": [ { "database": "UniProtKB", "id": "Q9VDR6", "url": "https://www.uniprot.org/uniprotkb/Q9VDR6" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q9VDR6", "url": "https://www.uniprot.org/uniprotkb/Q9VDR6" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparan sulfate 6-sulfotransferase activity", "id": "GO:0017095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017095", "evidence": [ { "database": "UniProtKB", "id": "Q9VDR6", "url": "https://www.uniprot.org/uniprotkb/Q9VDR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDR6-1" }, { "uniprot_canonical_ac": "Q9VDS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VDU9", "url": "https://www.uniprot.org/uniprotkb/Q9VDU9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDU9-1" }, { "uniprot_canonical_ac": "Q9VDV5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDV5", "url": "https://www.uniprot.org/uniprotkb/Q9VDV5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 585, "chemical_mass": 65647.0, "gene_names": "Dmel\\CG6231;CG6231;Dmel\\CG6231;Dmel_CG6231", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "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": [ { 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE56", "url": "https://www.uniprot.org/uniprotkb/Q9VE56" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 196, "chemical_mass": 22865.0, "gene_names": "Dmel\\CG14301;CG14301;Dmel\\CG14301;Dmel_CG14301", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VE56", "url": "https://www.uniprot.org/uniprotkb/Q9VE56" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VE56", "url": "https://www.uniprot.org/uniprotkb/Q9VE56" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE56-1" }, { "uniprot_canonical_ac": "Q9VE63-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE63", "url": "https://www.uniprot.org/uniprotkb/Q9VE63" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 283, "chemical_mass": 33022.0, "gene_names": "Dmel\\CG7691;CG7691;Dmel\\CG7691;Dmel_CG7691", "protein_name": "C2H2-type domain-containing protein", "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": "Q9VE63", "url": "https://www.uniprot.org/uniprotkb/Q9VE63" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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"Q9VE77-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 844, "chemical_mass": 96652.0, "gene_names": "Vha100-4;CG7678;Dmel\\CG7678;Dmel_CG7678;Vha100-4;vha100-4", "protein_name": "V-type proton ATPase subunit a", "disease": [ { "disease_id": "DOID:0061166", "name": "autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss", "description": "A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 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the ATP6V0A1 on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0070390", "evidence": [ { "id": "0070390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070390" } ], "weight": 0.0 }, { "disease_id": "DOID:0110942", "name": "autosomal recessive osteopetrosis 1", "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.", "url": "https://disease-ontology.org/term/DOID:0110942", "evidence": [ { "id": "0110942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110942" } ], "weight": 0.0 }, { "disease_id": "DOID:0112171", "name": "wrinkly skin syndrome", "description": "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31.", "url": "https://disease-ontology.org/term/DOID:0112171", "evidence": [ { "id": "0112171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112171" } ], "weight": 0.0 }, { "disease_id": "DOID:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.", "url": "https://disease-ontology.org/term/DOID:11836", "evidence": [ { "id": "11836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex", "id": "GO:0016471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016471", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" }, { "name": "proton-transporting ATPase activity, rotational mechanism", "id": "GO:0046961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046961", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" } ], "biological_process": [ { "name": "vacuolar acidification", "id": "GO:0007035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007035", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VE77", "url": "https://www.uniprot.org/uniprotkb/Q9VE77" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE77-1" }, { "uniprot_canonical_ac": "Q9VE78-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE78", "url": "https://www.uniprot.org/uniprotkb/Q9VE78" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 207, "chemical_mass": 23715.0, "gene_names": "cona;CG7676;CONA;Cona;Dmel\\CG7676;Dmel_CG7676;cona", "protein_name": "", "disease": [], "biological_process": [ { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q9VE78", "url": "https://www.uniprot.org/uniprotkb/Q9VE78" } ], "pmid": "" }, { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "Q9VE78", "url": "https://www.uniprot.org/uniprotkb/Q9VE78" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "Q9VE78", "url": "https://www.uniprot.org/uniprotkb/Q9VE78" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE78-1" }, { "uniprot_canonical_ac": "Q9VE98-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE98", "url": "https://www.uniprot.org/uniprotkb/Q9VE98" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 922, "chemical_mass": 103151.0, "gene_names": "Dmel\\CG8064;CG8064;DIP2;Dmel\\CG8064;Dmel_CG8064", "protein_name": "Small-subunit processome Utp12 domain-containing protein", "disease": [ { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Pwp2p-containing subcomplex of 90S preribosome", "id": "GO:0034388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034388", "evidence": [ { "database": "UniProtKB", "id": "Q9VE98", "url": "https://www.uniprot.org/uniprotkb/Q9VE98" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VE98", "url": "https://www.uniprot.org/uniprotkb/Q9VE98" } ], "pmid": "" } ], "molecular_function": [ { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "Q9VE98", "url": "https://www.uniprot.org/uniprotkb/Q9VE98" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030490", "evidence": [ { "database": "UniProtKB", "id": "Q9VE98", "url": "https://www.uniprot.org/uniprotkb/Q9VE98" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE98-1" }, { "uniprot_canonical_ac": "Q9VE99-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE99", "url": "https://www.uniprot.org/uniprotkb/Q9VE99" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 108, "chemical_mass": 12004.0, "gene_names": "Dmel\\CG14312;CG14312;Dmel\\CG14312;Dmel_CG14312", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE99-1" }, { "uniprot_canonical_ac": "Q9VK33-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1220, "chemical_mass": 133666.0, "gene_names": "Sfmbt;CG16975;Dmel\\CG16975;Dmel_CG16975;SFMBT;Sfmbt;dSFMBT;dSfmbt;sfmbt", "protein_name": "Polycomb protein Sfmbt", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "histone H3K9me2/3 reader activity", "id": "GO:0062072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062072", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "histone H4K20me2 reader activity", "id": "GO:0140005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140005", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "histone H4K20me1 reader activity", "id": "GO:0140117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140117", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "histone H3K4me1 reader activity", "id": "GO:0140109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140109", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "imaginal disc growth", "id": "GO:0007446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007446", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VK33", "url": "https://www.uniprot.org/uniprotkb/Q9VK33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VK33-1" }, { "uniprot_canonical_ac": "Q9U1K1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1020, "chemical_mass": 114867.0, "gene_names": "spir;38C.34;38C.37;CG10076;CG18621;Dmel\\CG10076;Dmel_CG10076;NP2788;Spire;Spir;l(2)08327;p150-Spir;p150Spir;spir", "protein_name": "Protein spire", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "actin filament network formation", "id": "GO:0051639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051639", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "actin nucleation", "id": "GO:0045010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045010", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9U1K1", "url": "https://www.uniprot.org/uniprotkb/Q9U1K1" } ], "pmid": "" }, { "name": "polar body extrusion after meiotic divisions", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035755", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism", "id": "GO:0016891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016891", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" }, { "name": "primary piRNA processing", "id": "GO:0140990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140990", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VKD7-1", "start_pos": "169", "end_pos": "169", "site_lbl": "His169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Abolishes cardiolipin hydrolase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" }, { "database": "PubMed", "id": "17543859", "url": "https://glygen.org/publication/PubMed/17543859" }, { "database": "PubMed", "id": "21397848", "url": "https://glygen.org/publication/PubMed/21397848" } ] }, { "sequence_org": "H", "sequence_mut": "Y", "comment": "In zuc(SG63); produce some eggs with a more normal eggshell phenotype in addition to the ventralized eggs compared to null mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" }, { "database": "PubMed", "id": "17543859", "url": "https://glygen.org/publication/PubMed/17543859" }, { "database": "PubMed", "id": "21397848", "url": "https://glygen.org/publication/PubMed/21397848" } ] } ] }, { "uniprot_canonical_ac": "Q9VKD7-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ala47", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "In zuc(RS49); produce some eggs with a more normal eggshell phenotype in addition to the ventralized eggs compared to null mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD7", "url": "https://www.uniprot.org/uniprotkb/Q9VKD7" }, { "database": "PubMed", "id": "17543859", "url": "https://glygen.org/publication/PubMed/17543859" } ] } ] } ], "record_id": "Q9VKD7-1" }, { "uniprot_canonical_ac": "Q9VPY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 587, "chemical_mass": 65049.0, "gene_names": "IntS14;CG4785;Dmel\\CG4785;IntS14;Q9VPY0", "protein_name": "Integrator complex subunit 14", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "pmid": "" }, { "name": "integrator complex", "id": "GO:0032039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032039", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "pmid": "" }, { "name": "INTAC complex", "id": "GO:0160232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160232", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "pmid": "" } ], "biological_process": [ { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY0", "url": "https://www.uniprot.org/uniprotkb/Q9VPY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPY0-1" }, { "uniprot_canonical_ac": "Q9W062-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 478, "chemical_mass": 56135.0, "gene_names": "Mfap1;CG1017;Dmel\\CG1017;Mfap1;dmfap1;mfap1", "protein_name": "Microfibrillar-associated protein 1", "disease": [], "biological_process": [ { "name": "regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010389", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" } ], "cellular_component": [ { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "Q9W062", "url": "https://www.uniprot.org/uniprotkb/Q9W062" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W062-1" }, { "uniprot_canonical_ac": "Q9W197-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 36294.0, "gene_names": "cN-IIIB;16769374;CG3362;Dmel\\CG3362;cN-IIIB;cNIII-like", "protein_name": "7-methylguanosine phosphate-specific 5'-nucleotidase", "disease": [ { "disease_id": "DOID:0051007", "name": "congenital nonspherocytic hemolytic anemia 8", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.", "url": "https://disease-ontology.org/term/DOID:0051007", "evidence": [ { "id": "0051007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051007" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nucleotidase activity", "id": "GO:0008252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008252", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "5'-nucleotidase activity", "id": "GO:0008253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008253", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleotide metabolic process", "id": "GO:0009117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009117", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "ribonucleoside monophosphate catabolic process", "id": "GO:0009158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009158", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" }, { "name": "guanosine-containing compound catabolic process", "id": "GO:1901069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901069", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W197-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Trp121", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "Y", "comment": "Considerable increase (12-fold) in KM for m(7)GMP and decreases KM 3-fold for CMP. Decreases KM 6-fold for m(7)GMP and increases KM 2-fold for CMP; when associated with His-75. Decreases KM 1.5-fold for m(7)GMP and increases KM 1.5-fold for CMP; when associated with Asn-76. Increases KM 7-fold for CMP; when associated with 75-His--Asn-76.", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" } ] } ] }, { "uniprot_canonical_ac": "Q9W197-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Phe75", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "H", "comment": "Increases KM 3-fold for m(7)GMP and increases KM 10-fold for CMP. Decreases KM 6-fold for m(7)GMP and increases KM 2-fold for CMP; when associated with Trp-121.", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" }, { "database": "PubMed", "id": "24603684", "url": "https://glygen.org/publication/PubMed/24603684" } ] } ] }, { "uniprot_canonical_ac": "Q9W197-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Gly76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "N", "comment": "Decreases KM 6-fold for m(7)GMP. Decreases KM 1.5-fold for m(7)GMP and increases KM 1.5-fold for CMP; when associated with Trp-121.", "evidence": [ { "database": "UniProtKB", "id": "Q9W197", "url": "https://www.uniprot.org/uniprotkb/Q9W197" }, { "database": "PubMed", "id": "24603684", "url": "https://glygen.org/publication/PubMed/24603684" } ] } ] } ], "record_id": "Q9W197-1" }, { "uniprot_canonical_ac": "P16371-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 730, "chemical_mass": 80231.0, "gene_names": "gro;10;BEST:GM01575;BEST:LD15161;BcDNA.LD33829;BcDNA:LD33829;CG8384;DGro;Dmel\\CG8384;Dmel_CG8384;E(spl)-WD;E(spl)[2];E(spl)gro;E(spl)m9/m10;En-spl;GRO;Grg/TLE;Groucho;Gro;TLE;anon-WO0118547.385;dAES1;dAES2;dGro;gro;l(3)gro;m10;m9-m10;m9/10;m9/m10;m9", "protein_name": "Protein groucho", "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": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "negative regulation of Toll signaling pathway", "id": "GO:0045751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045751", "evidence": [ { "database": "UniProtKB", "id": "P16371", "url": "https://www.uniprot.org/uniprotkb/P16371" } ], "pmid": "" }, { "name": "torso signaling pathway", "id": "GO:0008293", 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"https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID: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:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "weight": 0.0 }, { "disease_id": "DOID:1911", "name": "endodermal sinus tumor", "description": "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.", "url": "https://disease-ontology.org/term/DOID:1911", "evidence": [ { "id": "1911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1911" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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" } ], 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"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:3307", "name": "teratoma", "description": "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.", "url": "https://disease-ontology.org/term/DOID:3307", "evidence": [ { "id": "3307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3307" } ], "weight": 0.0 }, { "disease_id": "DOID:3390", "name": "palmoplantar keratosis", "description": "A keratosis characterized by abnormal thickening of the palms and the soles.", "url": "https://disease-ontology.org/term/DOID:3390", "evidence": [ { "id": "3390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3390" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:4603", "name": "epidermolytic hyperkeratosis", "description": "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth.", "url": "https://disease-ontology.org/term/DOID:4603", "evidence": [ { "id": "4603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4603" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "weight": 0.0 }, { "disease_id": "DOID:5374", "name": "pilomatrixoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5374", "evidence": [ { "id": "5374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5374" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "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": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "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": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "zonula adherens assembly", "id": "GO:0045186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045186", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "protein localization to adherens junction", "id": "GO:0071896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071896", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "photoreceptor cell differentiation", "id": "GO:0046530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046530", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "delamination", "id": "GO:0060232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060232", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "epithelial cell type specification, open tracheal system", "id": "GO:0035153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035153", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "female germline ring canal formation", "id": "GO:0007301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007301", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "P18824", "url": "https://www.uniprot.org/uniprotkb/P18824" } ], "pmid": "" }, { "name": "dorsal closure", "id": 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"12376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12376" } ], "weight": 0.0 }, { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:13137", "name": "Werdnig-Hoffmann disease", "description": "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:13137", "evidence": [ { "id": "13137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13137" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of synaptic transmission, cholinergic", "id": "GO:0032224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032224", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "terminal button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "AMPA glutamate receptor clustering", "id": "GO:0097113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097113", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "stem cell proliferation", "id": "GO:0072089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "protein-RNA complex assembly", "id": "GO:0022618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022618", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "basal protein localization", "id": "GO:0045175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045175", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "larval development", "id": "GO:0002164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002164", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "oocyte morphogenesis", "id": "GO:0048601", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "Q9VV74", "url": "https://www.uniprot.org/uniprotkb/Q9VV74" } ], "pmid": "" }, { "name": "SMN-Gemin2 complex", "id": 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"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:4258", "name": "Weissenbacher-Zweymuller syndrome", "description": "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.", "url": "https://disease-ontology.org/term/DOID:4258", "evidence": [ { "id": "4258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4258" } ], "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:5199", "name": "ureteral 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"name": "regulation of heart morphogenesis", "id": "GO:2000826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000826", "evidence": [ { "database": "UniProtKB", "id": "P40417", "url": "https://www.uniprot.org/uniprotkb/P40417" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P40417", "url": "https://www.uniprot.org/uniprotkb/P40417" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "P40417", "url": "https://www.uniprot.org/uniprotkb/P40417" } ], "pmid": "" }, { "name": "cellular response to arsenic-containing substance", "id": "GO:0071243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071243", "evidence": [ { "database": "UniProtKB", "id": "P40417", "url": 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"id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected 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:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID: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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "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: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: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:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. 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"Ae2;Ae2;BcDNA:RE59468;CG8177;DAE;Dmel\\CG8177;Dmel_CG8177;ae2;anon-EST:Posey259", "protein_name": "Anion exchange protein", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0050793", "name": "short QT syndrome", "description": "A heart conduction disease that is characterized by 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"molecular_function": [ { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "Q9VEK7", "url": "https://www.uniprot.org/uniprotkb/Q9VEK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEK7-1" }, { "uniprot_canonical_ac": "Q9VEM5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 273, "chemical_mass": 29779.0, "gene_names": "Dmel\\CG5255;CG5255;Dmel\\CG5255;Dmel_CG5255;SP141", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VEM5", "url": "https://www.uniprot.org/uniprotkb/Q9VEM5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEM5-1" }, { "uniprot_canonical_ac": "Q9VEQ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEQ3", "url": "https://www.uniprot.org/uniprotkb/Q9VEQ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 94, "chemical_mass": 10851.0, "gene_names": "Dmel\\CG18622;BcDNA:RH18149;CG18622;Dmel\\CG18622;Dmel_CG18622", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEQ3-1" }, { "uniprot_canonical_ac": "Q9VET1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VET1", "url": "https://www.uniprot.org/uniprotkb/Q9VET1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 552, "chemical_mass": 62603.0, "gene_names": "BcDNA:GH08773;BcDNA:GH08773;BcDNA;CG10345;Dmel\\CG10345;Dmel_CG10345", "protein_name": "Scavenger receptor class B member 1", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. 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:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q9VET1", "url": "https://www.uniprot.org/uniprotkb/Q9VET1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VET1", "url": "https://www.uniprot.org/uniprotkb/Q9VET1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VET1", "url": "https://www.uniprot.org/uniprotkb/Q9VET1" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "Q9VET1", "url": "https://www.uniprot.org/uniprotkb/Q9VET1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VET1-1" }, { "uniprot_canonical_ac": "Q9VET9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VET9", "url": "https://www.uniprot.org/uniprotkb/Q9VET9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 308, "chemical_mass": 34912.0, "gene_names": "Decay;CAS3;CC-3;CC3;CG14902;Cas3;Casp-3;Casp3;Caspae-3;Caspase-3;DECAY;Decay;Dmel\\CG14902;Dmel_CG14902;Drosophila executioner caspase related to Apopain/Yama;cas3;caspase 3;caspase-3;decay", "protein_name": "", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0060655", "name": "autosomal recessive congenital ichthyosis", "description": "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.", "url": "https://disease-ontology.org/term/DOID:0060655", "evidence": [ { "id": "0060655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060655" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:1002", "name": "endometritis", "description": "An endometrial disease that is characterized by inflammation of the endometrium.", "url": "https://disease-ontology.org/term/DOID:1002", "evidence": [ { "id": "1002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1002" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:11996", "name": "spermatic cord torsion", "description": "", "url": "https://disease-ontology.org/term/DOID:11996", "evidence": [ { "id": "11996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11996" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "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 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}, { "name": "pH-gated sodium channel activity", "id": "GO:0160125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160125", "evidence": [ { "database": "UniProtKB", "id": "Q9VFM3", "url": "https://www.uniprot.org/uniprotkb/Q9VFM3" } ], "pmid": "" }, { "name": "pH-gated calcium channel activity", "id": "GO:0160126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160126", "evidence": [ { "database": "UniProtKB", "id": "Q9VFM3", "url": "https://www.uniprot.org/uniprotkb/Q9VFM3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VFM3", "url": "https://www.uniprot.org/uniprotkb/Q9VFM3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VFM3", "url": "https://www.uniprot.org/uniprotkb/Q9VFM3" } ], "pmid": "" }, { "name": 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respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "Q9VG00", "url": "https://www.uniprot.org/uniprotkb/Q9VG00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG00-1" }, { "uniprot_canonical_ac": "Q9VG11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG11", "url": "https://www.uniprot.org/uniprotkb/Q9VG11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 38686.0, "gene_names": "Dmel\\CG14383;CG14383;Dmel\\CG14383;Dmel_CG14383", "protein_name": "DUF4485 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG11-1" }, { "uniprot_canonical_ac": "Q9VG13-1", "species": [ { "name": "Drosophila melanogaster", 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"comment": "", "icn3d_view": {}, "start_pos": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VG63-1" }, { "uniprot_canonical_ac": "Q9VG80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 49200.0, "gene_names": "Dmel\\CG5196;CG5196;Dmel\\CG5196;Dmel_CG5196", "protein_name": "Palmitoyltransferase", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-cysteine S-palmitoyltransferase activity", "id": "GO:0019706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019706", "evidence": [ { "database": "UniProtKB", "id": "Q9VG80", "url": "https://www.uniprot.org/uniprotkb/Q9VG80" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG80-1" }, { "uniprot_canonical_ac": "Q9VG87-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 502, "chemical_mass": 57235.0, "gene_names": "CG32919;CG10096;CG32919;Dmel\\CG10096;Dmel_CG10096;anon-WO0140519.58;dFAR1", "protein_name": "Fatty acyl-CoA reductase", "disease": [], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "pmid": "" } ], "biological_process": [ { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "pmid": "" } ], "molecular_function": [ { "name": "alcohol-forming very long-chain fatty acyl-CoA reductase activity", "id": "GO:0080019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080019", "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "pmid": "" }, { "name": "alcohol-forming long-chain fatty acyl-CoA reductase activity", "id": "GO:0102965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102965", "evidence": [ { "database": "UniProtKB", "id": "Q9VG87", "url": "https://www.uniprot.org/uniprotkb/Q9VG87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG87-1" }, { "uniprot_canonical_ac": "Q9VG91-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG91", "url": "https://www.uniprot.org/uniprotkb/Q9VG91" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 286, "chemical_mass": 29929.0, "gene_names": "clone 20;CG10035;Dmel\\CG10035;Dmel_CG10035;anon-EST:Liang-20;clone 20", "protein_name": "CG10035 protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG91-1" }, { "uniprot_canonical_ac": "Q9VGA0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGA0", "url": "https://www.uniprot.org/uniprotkb/Q9VGA0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 218, "chemical_mass": 25461.0, "gene_names": "GstD9;CG10091;DmGSTD9;DmGstd9;Dmel\\CG10091;Dmel_CG10091;GST-D9;GSTD9;GstD9;gstD9;gstd9", "protein_name": "", "disease": [], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA0", "url": "https://www.uniprot.org/uniprotkb/Q9VGA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA0", "url": "https://www.uniprot.org/uniprotkb/Q9VGA0" } ], "pmid": "" } ], "biological_process": [ { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA0", "url": "https://www.uniprot.org/uniprotkb/Q9VGA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGA0-1" }, { "uniprot_canonical_ac": "Q9VGA3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGA3", "url": "https://www.uniprot.org/uniprotkb/Q9VGA3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 220, "chemical_mass": 25332.0, "gene_names": "Dmel\\CG4115;CG4115;Dmel\\CG4115;Dmel_CG4115", "protein_name": "C-type lectin domain-containing protein", "disease": [], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA3", "url": "https://www.uniprot.org/uniprotkb/Q9VGA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGA3-1" }, { "uniprot_canonical_ac": "Q9VGA4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGA4", "url": "https://www.uniprot.org/uniprotkb/Q9VGA4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1169, "chemical_mass": 130149.0, "gene_names": "MBD-R2;CG10042;CG17393;Dm Tam3;Dmel\\CG10042;MBD-R2/NSL;MBD-R2;MBDR2;MBD;Mbdr2;Mbrd2;TAM3;dMBD-R2;mbd-R2", "protein_name": "Protein MBD-R2", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA4", "url": 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"https://www.alliancegenome.org/disease/DOID:0111908" } ], "weight": 0.0 }, { "disease_id": "DOID:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain.", "url": "https://disease-ontology.org/term/DOID:0112313", "evidence": [ { "id": "0112313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ], "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: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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "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: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: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:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3410", "name": "carotid artery thrombosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3410", "evidence": [ { "id": "3410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "embryonic epithelial tube formation", "id": "GO:0001838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001838", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "adult chitin-based cuticle development", "id": "GO:0008365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008365", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "regulation of tube architecture, open tracheal system", "id": "GO:0035152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035152", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "larval chitin-based cuticle development", "id": "GO:0008363", "url": 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system", "id": "GO:0035158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035158", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" } ], "cellular_component": [ { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" }, { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9VH23", "url": "https://www.uniprot.org/uniprotkb/Q9VH23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VH23-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Thr531", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 531, "start_aa": "Thr", "end_pos": 531, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr531", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VH23", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VH23" } ] } ] } ], "record_id": "Q9VH23-1" }, { "uniprot_canonical_ac": "Q9VH37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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} ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VIL5", "url": "https://www.uniprot.org/uniprotkb/Q9VIL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIL5-1" }, { "uniprot_canonical_ac": "Q9VIQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VIQ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 214, "chemical_mass": 24272.0, "gene_names": "Hf;CG10658;DHF;Dmel\\CG10658;Dmel_CG10658;GH21;Hf;Os9;dhf", "protein_name": "", "disease": [], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" }, { "name": "transmembrane monodehydroascorbate reductase activity", "id": "GO:0140575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140575", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" }, { "name": "transmembrane ascorbate ferrireductase activity", "id": "GO:0140571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140571", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" } ], "biological_process": [ { "name": "iron ion import across plasma membrane", "id": "GO:0098711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098711", "evidence": [ { "database": "UniProtKB", "id": "Q9VIT6", "url": "https://www.uniprot.org/uniprotkb/Q9VIT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIT6-1" }, { "uniprot_canonical_ac": "Q9VIU8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIU8", "url": "https://www.uniprot.org/uniprotkb/Q9VIU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1361, "chemical_mass": 152356.0, "gene_names": "Dmel\\CG10132;CG10132;Dmel\\CG10132;Dmel_CG10132", "protein_name": "NACHT domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIU8-1" }, { "uniprot_canonical_ac": "Q9VIW9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIW9", "url": "https://www.uniprot.org/uniprotkb/Q9VIW9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 596, "chemical_mass": 65470.0, "gene_names": "Alp12;Alp12;CG16771;Dmel\\CG16771;Dmel_CG16771", "protein_name": "alkaline phosphatase", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": 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"regulation of cell projection organization", "id": "GO:0031344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031344", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "actin filament debranching", "id": "GO:0071846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071846", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "negative regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034316", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "Arp2/3 complex binding", "id": "GO:0071933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071933", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q9VJL6", "url": "https://www.uniprot.org/uniprotkb/Q9VJL6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJL6-1" }, { "uniprot_canonical_ac": "Q9VJP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJP4", "url": "https://www.uniprot.org/uniprotkb/Q9VJP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 196, "chemical_mass": 21928.0, "gene_names": "Dmel\\CG15258;CG15258;Dmel\\CG15258;Dmel_CG15258", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJP4-1" }, { "uniprot_canonical_ac": "Q9VJQ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 474, "chemical_mass": 53348.0, "gene_names": "mol;35Bb;B1;BG:DS01219.1;CG15268;CG4482;Dmel\\CG4482;Dmel_CG4482;Mol;NIP;br3;l(2)35Bb;l(2)SH1330;l(2)SH2 1330;l(2)br23;l(2)br3;l35Bb;mol;nip", "protein_name": "", "disease": [ { "disease_id": "DOID:0112184", "name": "thyroid dyshormonogenesis 5", "description": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0112184", "evidence": [ { "id": "0112184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112184" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9VJQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJQ7-1" }, { "uniprot_canonical_ac": "Q9VJU8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJU8", "url": "https://www.uniprot.org/uniprotkb/Q9VJU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 448, "chemical_mass": 50441.0, "gene_names": "NimB4;BG:DS00180.8;CG16882;CG33115;CT37470;DS00180.8;Dmel\\CG33115;Dmel_CG33115;NimB4;nimB4", "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": "Q9VJU8", "url": "https://www.uniprot.org/uniprotkb/Q9VJU8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VJU8", "url": "https://www.uniprot.org/uniprotkb/Q9VJU8" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VJU8", "url": "https://www.uniprot.org/uniprotkb/Q9VJU8" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q9VJU8", "url": "https://www.uniprot.org/uniprotkb/Q9VJU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJU8-1" }, { "uniprot_canonical_ac": "Q9VJX9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 795, "chemical_mass": 90242.0, "gene_names": "Tehao;CG7121;CT22017;Dmel\\CG7121;Dmel_CG7121;Tehao;Tho;Tl-5;Toll 5;Toll-5;Toll5;dTLR5;dToll5;tehao;toll", "protein_name": "", "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:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. 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: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:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060000", "name": "infective endocarditis", "description": "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.", "url": "https://disease-ontology.org/term/DOID:0060000", "evidence": [ { "id": "0060000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060000" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "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:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080158", "name": "herpes simplex virus keratitis", "description": "A keratitis that has_material_basis_in herpes simplex type infection.", "url": "https://disease-ontology.org/term/DOID:0080158", "evidence": [ { "id": "0080158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080158" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "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: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:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11121", "name": "pulpitis", "description": "A dental pulp disease characterized by inflammation.", "url": "https://disease-ontology.org/term/DOID:11121", "evidence": [ { "id": "11121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11121" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:11823", "name": "hepatorenal syndrome", "description": "An acute kidney failure that is characterized by severe renal vasoconstriction.", "url": "https://disease-ontology.org/term/DOID:11823", "evidence": [ { "id": "11823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11823" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3178" } ], "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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "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:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8867", "name": "molluscum contagiosum", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.", "url": "https://disease-ontology.org/term/DOID:8867", "evidence": [ { "id": "8867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8867" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "antifungal innate immune response", "id": "GO:0061760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061760", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "positive regulation of antimicrobial peptide biosynthetic process", "id": "GO:0002807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002807", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" } ], "molecular_function": [ { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "Toll binding", "id": "GO:0005121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005121", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX9", "url": "https://www.uniprot.org/uniprotkb/Q9VJX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJX9-1" }, { "uniprot_canonical_ac": "Q9VJY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJY1", "url": "https://www.uniprot.org/uniprotkb/Q9VJY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 254, 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"name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" }, { "name": "3-hydroxyacyl-CoA dehydratase activity", "id": "GO:0018812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018812", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" }, { "name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity", "id": "GO:0102158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102158", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" } ], "biological_process": [ { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" }, { "name": "fatty acid elongation", "id": "GO:0030497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030497", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": "https://www.uniprot.org/uniprotkb/Q9VKD2" } ], "pmid": "" }, { "name": "very long-chain fatty acid biosynthetic process", "id": "GO:0042761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042761", "evidence": [ { "database": "UniProtKB", "id": "Q9VKD2", "url": 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} ] } ], "record_id": "Q9VKG8-1" }, { "uniprot_canonical_ac": "Q9VKH4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKH4", "url": "https://www.uniprot.org/uniprotkb/Q9VKH4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 174, "chemical_mass": 18277.0, "gene_names": "bs34f02.y1;CG14926;Dmel\\CG14926;Dmel_CG14926;bs34f02.y1", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKH4-1" }, { "uniprot_canonical_ac": "Q9VKI8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKI8", "url": "https://www.uniprot.org/uniprotkb/Q9VKI8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 35235.0, "gene_names": 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associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "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: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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" } ], "biological_process": [ { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" }, { "name": "aldehyde metabolic process", "id": "GO:0006081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006081", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" }, { "name": "acetaldehyde metabolic process", "id": "GO:0006117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006117", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldehyde dehydrogenase (NAD+) activity", "id": "GO:0004029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004029", "evidence": [ { "database": "UniProtKB", "id": "Q9VLC5", "url": "https://www.uniprot.org/uniprotkb/Q9VLC5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLC5-1" }, { "uniprot_canonical_ac": "Q9VLC9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLC9", "url": "https://www.uniprot.org/uniprotkb/Q9VLC9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 442, "chemical_mass": 51582.0, "gene_names": "Dmel\\CG3748;BcDNA:AT30262;CG3748;Dmel\\CG3748;Dmel_CG3748;anon-WO0140519.143", "protein_name": "LEM domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLC9-1" }, { "uniprot_canonical_ac": "Q9VLE6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLE6", "url": "https://www.uniprot.org/uniprotkb/Q9VLE6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1125, "chemical_mass": 130898.0, "gene_names": "Toll-4;CG18241;CT29238;Dmel\\CG18241;Dmel_CG18241;TL4;TLR4;Tl-4;Toll-4;Toll4;Toll;dTLR4;dToll4;toll", "protein_name": "", "disease": [ { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VLE6", "url": "https://www.uniprot.org/uniprotkb/Q9VLE6" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9VLE6", "url": "https://www.uniprot.org/uniprotkb/Q9VLE6" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VLE6", "url": "https://www.uniprot.org/uniprotkb/Q9VLE6" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9VLE6", "url": "https://www.uniprot.org/uniprotkb/Q9VLE6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLE6-1" }, { "uniprot_canonical_ac": "Q9VLF8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLF8", "url": "https://www.uniprot.org/uniprotkb/Q9VLF8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 275, "chemical_mass": 31529.0, "gene_names": "Dmel\\CG9555;CG9555;Dmel\\CG9555;Dmel_CG9555", "protein_name": "Protein rolling stone", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLF8", "url": "https://www.uniprot.org/uniprotkb/Q9VLF8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLF8-1" }, { "uniprot_canonical_ac": "Q9VLG3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLG3", "url": "https://www.uniprot.org/uniprotkb/Q9VLG3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 663, "chemical_mass": 77363.0, "gene_names": "gi21430616;CG18088;Dmel\\CG18088;Dmel_CG18088;gi21430616;gi7297472", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLG3-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Thr492", "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": 492, "start_aa": "Thr", "end_pos": 492, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr492", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VLG3-1" }, { "uniprot_canonical_ac": "Q9VLG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLG9", "url": "https://www.uniprot.org/uniprotkb/Q9VLG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 469, "chemical_mass": 52206.0, "gene_names": "Argl;Argl;BEST:GH06087;CG33085;CG9510;Dmel\\CG9510;Dmel_CG9510;gh06087", "protein_name": "", "disease": [ { "disease_id": "DOID:14755", "name": "argininosuccinic aciduria", "description": "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.", "url": "https://disease-ontology.org/term/DOID:14755", "evidence": [ { "id": "14755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14755" } ], "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:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VLG9", "url": "https://www.uniprot.org/uniprotkb/Q9VLG9" } ], "pmid": "" } ], "molecular_function": [ { "name": "argininosuccinate lyase activity", "id": "GO:0004056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004056", "evidence": [ { "database": "UniProtKB", "id": "Q9VLG9", "url": "https://www.uniprot.org/uniprotkb/Q9VLG9" } ], "pmid": "" } ], "biological_process": [ { "name": "L-arginine biosynthetic process via ornithine", "id": "GO:0042450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042450", "evidence": [ { "database": "UniProtKB", "id": "Q9VLG9", "url": "https://www.uniprot.org/uniprotkb/Q9VLG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLG9-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Thr446", "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": 446, "start_aa": "Thr", "end_pos": 446, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr446", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VLG9-1" }, { "uniprot_canonical_ac": "Q9VLI2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLI2", "url": "https://www.uniprot.org/uniprotkb/Q9VLI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1003, "chemical_mass": 114479.0, "gene_names": "LManIII;CG9463;Dmel\\CG9463;Dmel_CG9463;LManIII", "protein_name": "Alpha-mannosidase", "disease": [ { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "https://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI2", "url": "https://www.uniprot.org/uniprotkb/Q9VLI2" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VLI2", "url": "https://www.uniprot.org/uniprotkb/Q9VLI2" } ], "pmid": "" }, { "name": "alpha-mannosidase activity", 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"Drosophila melanogaster [7227]" } ], "length": 1469, "chemical_mass": 163867.0, "gene_names": "Tep3;CG7068;Dmel\\CG7068;Dmel_CG7068;TEP3mel;TEP3;TEPIII;Tep3;TepIII;dTEPIII", "protein_name": "TEP1-F", "disease": [], "biological_process": [ { "name": "defense response to other organism", "id": "GO:0098542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098542", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY7", "url": "https://www.uniprot.org/uniprotkb/Q9VLY7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY7", "url": "https://www.uniprot.org/uniprotkb/Q9VLY7" } ], "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": "Q9VLY7", "url": "https://www.uniprot.org/uniprotkb/Q9VLY7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY7", "url": "https://www.uniprot.org/uniprotkb/Q9VLY7" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY7", "url": "https://www.uniprot.org/uniprotkb/Q9VLY7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLY7-1" }, { "uniprot_canonical_ac": "Q9VM07-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM07", "url": "https://www.uniprot.org/uniprotkb/Q9VM07" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24930.0, "gene_names": 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"id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VM07-1" }, { "uniprot_canonical_ac": "Q9VM22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM22", "url": "https://www.uniprot.org/uniprotkb/Q9VM22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 448, "chemical_mass": 51434.0, "gene_names": "Dmel\\CG5149;CG5149;Dmel\\CG5149;Dmel_CG5149", "protein_name": "MTOR-associated protein MEAK7", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM22", "url": "https://www.uniprot.org/uniprotkb/Q9VM22" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VM22", "url": "https://www.uniprot.org/uniprotkb/Q9VM22" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VM22", "url": "https://www.uniprot.org/uniprotkb/Q9VM22" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VM22", "url": "https://www.uniprot.org/uniprotkb/Q9VM22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM22-1" }, { "uniprot_canonical_ac": "Q9VM47-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 763, "chemical_mass": 82865.0, "gene_names": "Mnn1;CG13778;CG33266;Dmel\\CG13778;Dmel_CG13778;MEN1;Menin1;Menin;Mnn1;Mnn;menin;mnn1", "protein_name": "Menin", "disease": [ { "disease_id": "DOID:10017", "name": "multiple endocrine neoplasia type 1", "description": "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.", "url": "https://disease-ontology.org/term/DOID:10017", "evidence": [ { "id": "10017", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10017" } ], "weight": 0.0 }, { "disease_id": "DOID:13543", "name": "hyperparathyroidism", "description": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.", "url": "https://disease-ontology.org/term/DOID:13543", 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"https://www.alliancegenome.org/disease/DOID:6255" } ], "weight": 0.0 }, { "disease_id": "DOID:7959", "name": "duodenal gastrinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7959", "evidence": [ { "id": "7959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7959" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "Y-form DNA binding", "id": "GO:0000403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000403", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044665", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "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": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "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": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "response to salt stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "interstrand cross-link repair", "id": "GO:0036297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036297", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "positive regulation of transcription elongation by RNA polymerase II", "id": "GO:0032968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032968", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "proboscis development", "id": "GO:0048728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048728", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "Q9VM47", "url": "https://www.uniprot.org/uniprotkb/Q9VM47" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM47-1" }, { "uniprot_canonical_ac": "Q9VM62-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1127, "chemical_mass": 130116.0, "gene_names": "SA1;CG3423;DSA1;DSA;DmSA;Dmel\\CG3423;Dmel_CG3423;ESTS:92H2T;SA-1;SA1;SA;SCC3;Scc3;stromalin", "protein_name": "", "disease": [ { "disease_id": "DOID:0060954", "name": "Holoprosencephaly 13, X-linked", "description": "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.", "url": "https://disease-ontology.org/term/DOID:0060954", "evidence": [ { "id": "0060954", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060954" } ], "weight": 0.0 }, { "disease_id": "DOID:0080238", "name": "autosomal dominant intellectual developmental disorder 47", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22.", "url": "https://disease-ontology.org/term/DOID:0080238", "evidence": [ { "id": "0080238", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080238" } ], "weight": 0.0 }, { "disease_id": "DOID:0080865", "name": "primary ovarian insufficiency 8", "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0080865", "evidence": [ { "id": "0080865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080865" } ], "weight": 0.0 }, { "disease_id": "DOID:0111845", "name": "Mullegama-Klein-Martinez syndrome", "description": "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25.", "url": "https://disease-ontology.org/term/DOID:0111845", "evidence": [ { "id": "0111845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111845" } ], "weight": 0.0 }, { "disease_id": "DOID:0112350", "name": "spermatogenic failure 61", "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1.", "url": "https://disease-ontology.org/term/DOID:0112350", "evidence": [ { "id": "0112350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112350" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitotic cohesin complex", "id": "GO:0030892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030892", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "cohesin complex", "id": "GO:0008278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008278", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "condensed chromosome, centromeric region", "id": "GO:0000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000779", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" } ], "biological_process": [ { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "establishment of mitotic sister chromatid cohesion", "id": "GO:0034087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034087", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion", "id": "GO:0007064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007064", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "sister chromatid cohesion", "id": "GO:0007062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007062", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" }, { "name": "establishment of meiotic sister chromatid cohesion", "id": "GO:0034089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034089", "evidence": [ { "database": "UniProtKB", "id": "Q9VM62", "url": "https://www.uniprot.org/uniprotkb/Q9VM62" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM62-1" }, { "uniprot_canonical_ac": "Q9VM97-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1060, "chemical_mass": 118254.0, "gene_names": "Tsp;CG11326;CT31613;D-TSP;DTSP;Dmel\\CG11326;Dmel_CG11326;SP295;TSP;Tsp;tsp", "protein_name": "", "disease": [ { "disease_id": "DOID:0070303", "name": "multiple epiphyseal dysplasia 1", "description": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0070303", "evidence": [ { "id": "0070303", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070303" } ], "weight": 0.0 }, { "disease_id": "DOID:0070467", "name": "carpal tunnel syndrome 2", "description": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11.", "url": "https://disease-ontology.org/term/DOID:0070467", "evidence": [ { "id": "0070467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070467" } ], "weight": 0.0 }, { "disease_id": "DOID:0080047", "name": "pseudoachondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080047", "evidence": [ { "id": "0080047", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080047" } ], "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: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: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:12721", "name": "multiple epiphyseal dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.", "url": "https://disease-ontology.org/term/DOID:12721", "evidence": [ { "id": "12721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12721" } ], "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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "somatic muscle attachment to chitin-based cuticle", "id": "GO:0160175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160175", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9VM97", "url": "https://www.uniprot.org/uniprotkb/Q9VM97" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM97-1" }, { "uniprot_canonical_ac": "Q9VMC3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMC3", "url": "https://www.uniprot.org/uniprotkb/Q9VMC3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 55540.0, "gene_names": "Dmel\\CG31637;CG13765;CG31637;CG9551;Dmel\\CG31637;Dmel_CG31637;anon-WO0118547.107;d6ST1", "protein_name": "Sulfotransferase domain-containing protein", "disease": [ { "disease_id": "DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.", "url": "https://disease-ontology.org/term/DOID:0050813", "evidence": [ { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:2565", "name": "macular corneal dystrophy", "description": "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.", "url": "https://disease-ontology.org/term/DOID:2565", "evidence": [ { "id": "2565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2565" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "N-acetylglucosamine 6-O-sulfotransferase activity", "id": "GO:0001517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001517", "evidence": [ { "database": "UniProtKB", "id": "Q9VMC3", "url": "https://www.uniprot.org/uniprotkb/Q9VMC3" } ], "pmid": "" } ], "biological_process": [ { "name": "N-acetylglucosamine metabolic process", "id": "GO:0006044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006044", "evidence": [ { "database": "UniProtKB", "id": "Q9VMC3", "url": "https://www.uniprot.org/uniprotkb/Q9VMC3" } ], "pmid": "" }, { "name": "sulfur compound metabolic process", "id": "GO:0006790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006790", "evidence": [ { "database": "UniProtKB", "id": "Q9VMC3", "url": "https://www.uniprot.org/uniprotkb/Q9VMC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMC3-1" }, { "uniprot_canonical_ac": "Q9VME0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VME0", "url": "https://www.uniprot.org/uniprotkb/Q9VME0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 329, "chemical_mass": 36918.0, "gene_names": "Dmel\\CG13982;CG13982;Dmel\\CG13982;Dmel_CG13982", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VME0-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "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": 187, "start_aa": "Thr", "end_pos": 187, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr187", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VME0-1" }, { "uniprot_canonical_ac": "Q9VME1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VME1", "url": "https://www.uniprot.org/uniprotkb/Q9VME1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 401, "chemical_mass": 46790.0, "gene_names": "CG33295;CG13981;CG33295;CG42369;CG9508;CG9511;CT26922;Dmel\\CG42369;Dmel_CG42369", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VME1-1" }, { "uniprot_canonical_ac": "Q9VME7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VME7", "url": "https://www.uniprot.org/uniprotkb/Q9VME7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 292, "chemical_mass": 33666.0, "gene_names": "AAF52372;CG9500;Dmel\\CG9500;Dmel_CG9500;FBpp0078910", "protein_name": "Fibrinogen C-terminal domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VME7", "url": "https://www.uniprot.org/uniprotkb/Q9VME7" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9VME7", "url": "https://www.uniprot.org/uniprotkb/Q9VME7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VME7-1" }, { "uniprot_canonical_ac": "Q9VMH4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 445, "chemical_mass": 48852.0, "gene_names": "Dmel\\CG9175;CG9175;Dmel\\CG9175;Dmel_CG9175;Sec12", "protein_name": "Prolactin regulatory element-binding protein", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" }, { "name": "regulation of COPII vesicle coating", "id": "GO:0003400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003400", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9VMH4", "url": "https://www.uniprot.org/uniprotkb/Q9VMH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMH4-1" }, { "uniprot_canonical_ac": "Q9VMI8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMI8", "url": "https://www.uniprot.org/uniprotkb/Q9VMI8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 228, "chemical_mass": 25200.0, "gene_names": "Dmel\\CG9117;CG9117;Dmel\\CG9117;Dmel_CG9117", "protein_name": "Metallo-beta-lactamase domain-containing protein 1", "disease": [], "cellular_component": [ { "name": 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"Drosophila melanogaster [7227]" } ], "length": 900, "chemical_mass": 104013.0, "gene_names": "Toll-9;CG5528;CT17508;Dm Toll-9;Dmel\\CG5528;Dmel_CG5528;TOLL 9;Tak/Toll-like;Tl-5;Tl-9;Toll 9;Toll-6;Toll-9;Toll-like;Toll9;Toll;dTLR9;dToll9;toll", "protein_name": "", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. 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: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: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:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0060000", "name": "infective endocarditis", "description": "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.", "url": "https://disease-ontology.org/term/DOID:0060000", "evidence": [ { "id": "0060000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060000" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080176", "name": "meningococcal meningitis", "description": "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection.", "url": "https://disease-ontology.org/term/DOID:0080176", "evidence": [ { "id": "0080176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080176" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080784", "name": "urinary tract infection", "description": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra.", "url": "https://disease-ontology.org/term/DOID:0080784", "evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081012", "name": "critical COVID-19", "description": "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy.", "url": "https://disease-ontology.org/term/DOID:0081012", "evidence": [ { "id": "0081012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081012" } ], "weight": 0.0 }, { "disease_id": "DOID:0081013", "name": "severe COVID-19", "description": "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, 60 breaths/min in children < 2 months old, 50 in children 211 months old, and 40 in children 15 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.", "url": "https://disease-ontology.org/term/DOID:0081013", "evidence": [ { "id": "0081013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081013" } ], "weight": 0.0 }, { "disease_id": "DOID:10074", "name": "hymenolepiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.", "url": "https://disease-ontology.org/term/DOID:10074", "evidence": [ { "id": "10074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10074" } ], "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: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:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11506", "name": "suppurative otitis media", "description": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus.", "url": "https://disease-ontology.org/term/DOID:11506", "evidence": [ { "id": "11506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11506" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3178" } ], "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: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID:580", "name": "uric acid nephrolithiasis", "description": "A nephrolithiasis that is characterized by stones composed predominantly uric acid.", "url": "https://disease-ontology.org/term/DOID:580", "evidence": [ { "id": "580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:580" } ], "weight": 0.0 }, { "disease_id": "DOID:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8867", "name": "molluscum contagiosum", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center.", "url": "https://disease-ontology.org/term/DOID:8867", "evidence": [ { "id": "8867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8867" } ], "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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 }, { "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH1", "url": "https://www.uniprot.org/uniprotkb/Q9VPH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPH1-1" }, { "uniprot_canonical_ac": "Q9VPI8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 360, "chemical_mass": 39101.0, "gene_names": "net;CG11450;Dmel\\CG11450;Dmel_CG11450;Group IId;Net;Shout;bHLHc42;net;shout", "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": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "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": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein morphogenesis", "id": "GO:0008586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008586", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI8", "url": "https://www.uniprot.org/uniprotkb/Q9VPI8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPI8-1" }, { "uniprot_canonical_ac": "Q9VPL4-1", 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muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY9", "url": "https://www.uniprot.org/uniprotkb/Q9VPY9" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY9", "url": "https://www.uniprot.org/uniprotkb/Q9VPY9" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY9", "url": "https://www.uniprot.org/uniprotkb/Q9VPY9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9VPY9", "url": "https://www.uniprot.org/uniprotkb/Q9VPY9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPY9-1" }, { "uniprot_canonical_ac": "Q9VQ04-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ04", "url": "https://www.uniprot.org/uniprotkb/Q9VQ04" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 240, "chemical_mass": 26480.0, "gene_names": "28557659;28557659;CG5565;Dmel\\CG5565;Dmel_CG5565", "protein_name": "", "disease": [], "molecular_function": [ { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ04", "url": "https://www.uniprot.org/uniprotkb/Q9VQ04" } ], "pmid": "" }, { "name": "pseudouridine 5'-phosphatase activity", "id": "GO:1990738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990738", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ04", "url": "https://www.uniprot.org/uniprotkb/Q9VQ04" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ04-1" }, { "uniprot_canonical_ac": "Q9VQ06-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ06", "url": "https://www.uniprot.org/uniprotkb/Q9VQ06" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 206, "chemical_mass": 23743.0, "gene_names": "Dmel\\CG14346;CG14346;Dmel\\CG14346;Dmel_CG14346", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ06-1" }, { "uniprot_canonical_ac": "Q9VQ12-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ12", "url": "https://www.uniprot.org/uniprotkb/Q9VQ12" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 405, "chemical_mass": 44237.0, "gene_names": "CG10872;CG10872;CG33128;Dmel\\CG33128;Dmel_CG33128", "protein_name": "Peptidase A1 domain-containing protein", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ12", "url": "https://www.uniprot.org/uniprotkb/Q9VQ12" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ12", "url": "https://www.uniprot.org/uniprotkb/Q9VQ12" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ12", "url": "https://www.uniprot.org/uniprotkb/Q9VQ12" } ], "pmid": "" } ], "molecular_function": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ12", "url": "https://www.uniprot.org/uniprotkb/Q9VQ12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ12-1" }, { "uniprot_canonical_ac": "Q9VQ13-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 410, "chemical_mass": 44712.0, "gene_names": "Dmel\\CG31926;CG10872;CG31926;Dmel\\CG31926;Dmel_CG31926", "protein_name": "Peptidase A1 domain-containing protein", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050811" } ], "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:0061119", "name": "autosomal dominant tubulointerstitial kidney disease 4", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0061119", "evidence": [ { "id": "0061119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061119" } ], "weight": 0.0 }, { "disease_id": "DOID:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "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: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:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "pmid": "" }, { "name": "egg chorion assembly", "id": "GO:0007306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007306", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "pmid": "" }, { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "pmid": "" } ], "molecular_function": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ13", "url": "https://www.uniprot.org/uniprotkb/Q9VQ13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ13-1" }, { "uniprot_canonical_ac": "Q9VQ52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ52", "url": "https://www.uniprot.org/uniprotkb/Q9VQ52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 966, "chemical_mass": 106672.0, "gene_names": "CG15359;Dmel\\CG31663;BcDNA:GH27779;CG15359;CG15360;CG31663;Dmel\\CG31663;Dmel_CG31663", "protein_name": "Major facilitator superfamily associated domain-containing protein", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ52", "url": "https://www.uniprot.org/uniprotkb/Q9VQ52" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ52", "url": "https://www.uniprot.org/uniprotkb/Q9VQ52" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ52", "url": "https://www.uniprot.org/uniprotkb/Q9VQ52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ52-1" }, { "uniprot_canonical_ac": "Q9VQ53-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ53", "url": "https://www.uniprot.org/uniprotkb/Q9VQ53" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 252, "chemical_mass": 28598.0, "gene_names": "mdcds_4396;CG15358;Dmel\\CG15358;Dmel_CG15358", "protein_name": "C-type lectin domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ53", "url": "https://www.uniprot.org/uniprotkb/Q9VQ53" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ53", "url": "https://www.uniprot.org/uniprotkb/Q9VQ53" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ53", "url": 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"Q9VQN2-1" }, { "uniprot_canonical_ac": "Q9VQR8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQR8", "url": "https://www.uniprot.org/uniprotkb/Q9VQR8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1182, "chemical_mass": 134873.0, "gene_names": "LeuRS;CG3229;CG33123;Dmel\\CG33123;Dmel_CG33123;LeuRS;anon-EST:Posey266;l(2)SH0501;l(2)SH2 0501", "protein_name": "leucine--tRNA ligase", "disease": [ { "disease_id": "DOID:0080717", "name": "infantile liver failure syndrome 1", "description": "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.", "url": "https://disease-ontology.org/term/DOID:0080717", "evidence": [ { "id": "0080717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080717" } ], "weight": 0.0 } ], "molecular_function": [ { 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRN6-1" }, { "uniprot_canonical_ac": "Q9VRP2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRP2", "url": "https://www.uniprot.org/uniprotkb/Q9VRP2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 391, "chemical_mass": 42773.0, "gene_names": "BEST:CK00496;BEST:CK00496;CG10576;Dmel\\CG10576;Dmel_CG10576;dPA2G4", "protein_name": "Peptidase M24 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRP2-1" }, { "uniprot_canonical_ac": "Q9VRS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 442, "chemical_mass": 48994.0, "gene_names": "alphaKap4;CG10478;CG11040;Dmel\\CG10478;Dmel_CG10478;alphaKap4;g7295403", "protein_name": "Importin subunit alpha", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" }, { "name": "NLS-dependent protein nuclear import complex", "id": "GO:0042564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042564", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome assembly", "id": "GO:0043248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043248", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" }, { "name": "NLS-bearing protein import into nucleus", "id": "GO:0006607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006607", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" } ], "molecular_function": [ { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS0", "url": "https://www.uniprot.org/uniprotkb/Q9VRS0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRS0-1" }, { "uniprot_canonical_ac": "Q9VRT8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRT8", "url": "https://www.uniprot.org/uniprotkb/Q9VRT8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 866, "chemical_mass": 97323.0, "gene_names": "ssp6;CG6619;Dmel\\CG6619;Dmel_CG6619;Ssp6;ssp6", "protein_name": "", "disease": [ { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU0", "url": "https://www.uniprot.org/uniprotkb/Q9VRU0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU0", "url": "https://www.uniprot.org/uniprotkb/Q9VRU0" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU0", "url": "https://www.uniprot.org/uniprotkb/Q9VRU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRU0-1" }, { "uniprot_canonical_ac": "Q9VRU1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 364, "chemical_mass": 39627.0, "gene_names": "Galm2;CG10467;Dmel\\CG10467;Dmel_CG10467", "protein_name": "Aldose 1-epimerase", "disease": [ { "disease_id": "DOID:0060969", "name": "galactosemia 4", "description": "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0060969", "evidence": [ { "id": "0060969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060969" } ], "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": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" } ], "biological_process": [ { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" }, { "name": "galactose catabolic process via UDP-galactose, Leloir pathway", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" }, { "name": "aldose 1-epimerase activity", "id": "GO:0004034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004034", "evidence": [ { "database": "UniProtKB", "id": "Q9VRU1", "url": "https://www.uniprot.org/uniprotkb/Q9VRU1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRU1-1" }, { "uniprot_canonical_ac": "Q9VRW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRW4", "url": "https://www.uniprot.org/uniprotkb/Q9VRW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 809, "chemical_mass": 89881.0, "gene_names": "Best2;Best2;CG10173;Dmel\\CG10173;Dmel_CG10173;dBest2;dbest2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050661", "name": "vitelliform macular dystrophy", "description": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss.", "url": "https://disease-ontology.org/term/DOID:0050661", "evidence": [ { "id": "0050661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050661" } ], "weight": 0.0 }, { "disease_id": "DOID:0050662", "name": "bestrophinopathy", "description": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.", "url": "https://disease-ontology.org/term/DOID:0050662", "evidence": [ { "id": "0050662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050662" } ], "weight": 0.0 }, { "disease_id": "DOID:0110396", "name": "retinitis pigmentosa 50", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13.", "url": "https://disease-ontology.org/term/DOID:0110396", "evidence": [ { "id": "0110396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110396" } ], "weight": 0.0 }, { "disease_id": "DOID:0111569", "name": "autosomal dominant vitreoretinochoroidopathy", "description": "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3.", "url": "https://disease-ontology.org/term/DOID:0111569", "evidence": [ { "id": "0111569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111569" } ], "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 } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VRW4", "url": "https://www.uniprot.org/uniprotkb/Q9VRW4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VRW4", "url": "https://www.uniprot.org/uniprotkb/Q9VRW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q9VRW4", "url": 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 763, "start_aa": "Thr", "end_pos": 763, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr763", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VRW4-1" }, { "uniprot_canonical_ac": "Q9VRW5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRW5", "url": "https://www.uniprot.org/uniprotkb/Q9VRW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 378, "chemical_mass": 42468.0, "gene_names": "Dmel\\CG10163;CG10163;Dmel\\CG10163;Dmel_CG10163", "protein_name": "Lipase domain-containing protein", "disease": [ { "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:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX7", "url": "https://www.uniprot.org/uniprotkb/Q9VRX7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX7", "url": "https://www.uniprot.org/uniprotkb/Q9VRX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX7", "url": "https://www.uniprot.org/uniprotkb/Q9VRX7" } ], "pmid": "" }, { "name": "exonuclease activity", "id": "GO:0004527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004527", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX7", "url": "https://www.uniprot.org/uniprotkb/Q9VRX7" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX7", "url": "https://www.uniprot.org/uniprotkb/Q9VRX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRX7-1" }, { "uniprot_canonical_ac": "Q9VRZ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 259, "chemical_mass": 29435.0, "gene_names": "Uqcc1;CG10075;Dmel\\CG10075;Dmel_CG10075;UQCC1;Uqcc1;dUQCC1", "protein_name": "Ubiquinol-cytochrome c reductase complex assembly factor 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ7" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex III assembly", "id": "GO:0034551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034551", "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRZ7-1" }, { "uniprot_canonical_ac": "Q9VS01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 181, "chemical_mass": 21150.0, "gene_names": "Mis12;BcDNA:RE19545;CG18156;Dmel\\CG18156;Dmel_CG18156;Mis-12;Mis12C;Mis12;dmMis12;mis12", "protein_name": "", "disease": [], "biological_process": [ { "name": "mitotic chromosome movement towards spindle pole", "id": "GO:0007079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007079", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "attachment of spindle microtubules to kinetochore", "id": "GO:0008608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008608", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" }, { "name": "MIS12/MIND type complex", "id": "GO:0000444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000444", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" } ], "molecular_function": [ { "name": "kinetochore adaptor activity", "id": "GO:0140483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140483", "evidence": [ { "database": "UniProtKB", "id": "Q9VS01", "url": "https://www.uniprot.org/uniprotkb/Q9VS01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VS01-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Thr45", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], 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"BcDNA:AT30027;BcDNA:AT30027;CG10063;Dmel\\CG10063;Dmel_CG10063", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS03-1" }, { "uniprot_canonical_ac": "Q9VS11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS11", "url": "https://www.uniprot.org/uniprotkb/Q9VS11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 263, "chemical_mass": 29683.0, "gene_names": "Dmel\\CG14823;CG14823;Dmel\\CG14823;Dmel_CG14823", "protein_name": "lysozyme", "disease": [], "biological_process": [ { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9VS11", "url": "https://www.uniprot.org/uniprotkb/Q9VS11" } ], "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": "Q9VS11", "url": "https://www.uniprot.org/uniprotkb/Q9VS11" } ], "pmid": "" } ], "molecular_function": [ { "name": "lysozyme activity", "id": "GO:0003796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003796", "evidence": [ { "database": "UniProtKB", "id": "Q9VS11", "url": "https://www.uniprot.org/uniprotkb/Q9VS11" } ], "pmid": "" }, { "name": "hydrolase activity, acting on glycosyl bonds", "id": "GO:0016798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016798", "evidence": [ { "database": "UniProtKB", "id": "Q9VS11", "url": "https://www.uniprot.org/uniprotkb/Q9VS11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VS11-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Thr129", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": 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larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "Q9VS14", "url": "https://www.uniprot.org/uniprotkb/Q9VS14" } ], "pmid": "" } ], "biological_process": [ { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VS14", "url": "https://www.uniprot.org/uniprotkb/Q9VS14" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9VS14", "url": "https://www.uniprot.org/uniprotkb/Q9VS14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS14-1" }, { "uniprot_canonical_ac": "Q9VS33-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS33", "url": "https://www.uniprot.org/uniprotkb/Q9VS33" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 460, "chemical_mass": 51919.0, "gene_names": "BHD;BHD;CG8616;CT25610;DBHD;Dmel\\CG8616;Dmel_CG8616;dFLCN", "protein_name": "Folliculin", "disease": [ { "disease_id": "DOID:0050387", "name": "nonpapillary renal cell carcinoma", "description": "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.", "url": "https://disease-ontology.org/term/DOID:0050387", "evidence": [ { "id": "0050387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050387" } ], "weight": 0.0 }, { "disease_id": "DOID:0050676", "name": "Birt-Hogg-Dube syndrome", "description": "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:0050676", "evidence": [ { "id": "0050676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050676" } ], "weight": 0.0 }, { "disease_id": "DOID:0080218", "name": "primary spontaneous pneumothorax", "description": "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.", "url": "https://disease-ontology.org/term/DOID:0080218", "evidence": [ { "id": "0080218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080218" } ], "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": 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"site_lbl": "Thr131", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VV17-1" }, { "uniprot_canonical_ac": "Q9VV19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV19", "url": "https://www.uniprot.org/uniprotkb/Q9VV19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 181, "chemical_mass": 19314.0, "gene_names": "Dmel\\CG13046;CG13046;Dmel\\CG13046;Dmel_CG13046", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VV19-1" }, { "uniprot_canonical_ac": "Q9VV24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV24", "url": "https://www.uniprot.org/uniprotkb/Q9VV24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 148, "chemical_mass": 14909.0, "gene_names": "BcDNA:RH10371;BcDNA:RH10371;CG13043;CT32262;Dmel\\CG13043;Dmel_CG13043", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VV24-1" }, { "uniprot_canonical_ac": "Q9VV25-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV25", "url": "https://www.uniprot.org/uniprotkb/Q9VV25" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 129, "chemical_mass": 13296.0, "gene_names": "Dmel\\CG13063;CG13063;Dmel\\CG13063;Dmel_CG13063", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VV25-1" }, { "uniprot_canonical_ac": "Q9VV37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH5", "url": "https://www.uniprot.org/uniprotkb/Q9VVH5" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH5", "url": "https://www.uniprot.org/uniprotkb/Q9VVH5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVH5-1" }, { "uniprot_canonical_ac": "Q9VVH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVH8", "url": "https://www.uniprot.org/uniprotkb/Q9VVH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 206, "chemical_mass": 23791.0, "gene_names": "Dmel\\CG6333;CG6333;Dmel\\CG6333;Dmel_CG6333", "protein_name": "", "disease": [], "binding_glycans": [], 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 504, "chemical_mass": 53085.0, "gene_names": "Dld;CG7430;Dmel\\CG7430;Dmel_CG7430;E3", "protein_name": "Dihydrolipoyl dehydrogenase", "disease": [ { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL7", "url": "https://www.uniprot.org/uniprotkb/Q9VVL7" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", 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fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 742, "chemical_mass": 80315.0, "gene_names": "Prestin;CG5485;CG5845;Dmel\\CG5485;Dmel_CG5485;Prestin;Slc26a5;dPrestin;dpres;prestin", "protein_name": "", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0050581", "name": "brachydactyly", "description": "A dysostosis characterized by short fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050581", "evidence": [ { "id": "0050581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050581" } ], "weight": 0.0 }, { "disease_id": "DOID:0050648", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.", "url": "https://disease-ontology.org/term/DOID:0050648", "evidence": [ { "id": "0050648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050648" } ], "weight": 0.0 }, { "disease_id": "DOID:0060296", "name": "congenital secretory chloride diarrhea 1", "description": "A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31.", "url": "https://disease-ontology.org/term/DOID:0060296", "evidence": [ { "id": "0060296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060296" } ], "weight": 0.0 }, { "disease_id": "DOID:0060744", "name": "Pendred Syndrome", "description": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.", "url": "https://disease-ontology.org/term/DOID:0060744", "evidence": [ { "id": "0060744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060744" } ], "weight": 0.0 }, { "disease_id": "DOID:0070168", "name": "spermatogenic failure 3", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0070168", "evidence": [ { "id": "0070168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070168" } ], "weight": 0.0 }, { "disease_id": "DOID:0070300", "name": "multiple epiphyseal dysplasia 4", "description": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.", "url": "https://disease-ontology.org/term/DOID:0070300", "evidence": [ { "id": "0070300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070300" } ], "weight": 0.0 }, { "disease_id": "DOID:0080055", "name": "achondrogenesis type IB", "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.", "url": "https://disease-ontology.org/term/DOID:0080055", "evidence": [ { "id": "0080055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080055" } ], "weight": 0.0 }, { "disease_id": "DOID:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080652", "evidence": [ { "id": "0080652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ], "weight": 0.0 }, { "disease_id": "DOID:0110498", "name": "autosomal recessive nonsyndromic deafness 4", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0110498", "evidence": [ { "id": "0110498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110498" } ], "weight": 0.0 }, { "disease_id": "DOID:0110513", "name": "autosomal recessive nonsyndromic deafness 61", "description": "An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0110513", "evidence": [ { "id": "0110513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110513" } ], "weight": 0.0 }, { "disease_id": "DOID:12176", "name": "goiter", "description": "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12176", "evidence": [ { "id": "12176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12176" } ], "weight": 0.0 }, { "disease_id": "DOID:13250", "name": "diarrhea", "description": "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "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:14687", "name": "diastrophic dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:14687", "evidence": [ { "id": "14687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14687" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:2300", "name": "spondylolysis", "description": "A bone structure disease that involves a defect located_in lumbar vertebral column.", "url": "https://disease-ontology.org/term/DOID:2300", "evidence": [ { "id": "2300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2300" } ], "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:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "formate transmembrane transporter activity", "id": "GO:0015499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015499", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "calcium ion transmembrane transporter activity", "id": "GO:0015085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015085", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" } ], "biological_process": [ { "name": "formate transport", "id": "GO:0015724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015724", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "oxalate transport", "id": "GO:0019532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019532", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM6", "url": "https://www.uniprot.org/uniprotkb/Q9VVM6" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", 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} ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9VXK8", "url": "https://www.uniprot.org/uniprotkb/Q9VXK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXK8-1" }, { "uniprot_canonical_ac": "Q9VXQ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VXQ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 191, "chemical_mass": 21111.0, "gene_names": "Dmel\\CG8206;CG8206;Dmel\\CG8206;Dmel_CG8206", "protein_name": "DNL-type domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 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"end_pos": 598, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr598", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VY98-1" }, { "uniprot_canonical_ac": "Q9VYA1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYA1", "url": "https://www.uniprot.org/uniprotkb/Q9VYA1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 362, "chemical_mass": 40425.0, "gene_names": "Dmel\\CG12177;CG12177;Dmel\\CG12177;Dmel_CG12177", "protein_name": "Inosine/uridine-preferring nucleoside hydrolase domain-containing protein", "disease": [], "biological_process": [ { "name": "pyrimidine nucleoside catabolic process", "id": "GO:0046135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046135", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA1", "url": 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process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA5", "url": "https://www.uniprot.org/uniprotkb/Q9VYA5" } ], "pmid": "" }, { "name": "nucleotide-excision repair, DNA gap filling", "id": "GO:0006297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006297", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA5", "url": "https://www.uniprot.org/uniprotkb/Q9VYA5" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA5", "url": "https://www.uniprot.org/uniprotkb/Q9VYA5" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9VYA5", "url": "https://www.uniprot.org/uniprotkb/Q9VYA5" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end 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] } ], "record_id": "Q9W028-1" }, { "uniprot_canonical_ac": "Q9W044-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W044", "url": "https://www.uniprot.org/uniprotkb/Q9W044" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 490, "chemical_mass": 55456.0, "gene_names": "Dmel\\CG13810;CG13810;Dmel\\CG13810;Dmel_CG13810", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W044-1" }, { "uniprot_canonical_ac": "Q9W087-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W087", "url": "https://www.uniprot.org/uniprotkb/Q9W087" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 95, "chemical_mass": 10354.0, "gene_names": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 190, "chemical_mass": 22221.0, "gene_names": "BcDNA:AT11049;BcDNA:AT11049;CG13405;Dmel\\CG13405;Dmel_CG13405", "protein_name": "Pescadillo homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0V5-1" }, { "uniprot_canonical_ac": "Q9W0X1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0X1", "url": "https://www.uniprot.org/uniprotkb/Q9W0X1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 507, "chemical_mass": 58176.0, "gene_names": "cg2736;CG2736;Dmel\\CG2736;Dmel_CG2736;cg2736", "protein_name": "Scavenger receptor class B member 1", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease 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} ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W268", "url": "https://www.uniprot.org/uniprotkb/Q9W268" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W268-1" }, { "uniprot_canonical_ac": "Q9W275-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W275", "url": "https://www.uniprot.org/uniprotkb/Q9W275" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 543, "chemical_mass": 58258.0, "gene_names": "Alp7;Alp7;CG3292;Dmel\\CG3292;Dmel_CG3292", "protein_name": "Alkaline phosphatase", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": 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"Vps35;CG5625;DVps35;DmVps35;Dmel\\CG5625;Dmel_CG5625;Dvps35;VPS35;Vps35;dVPS35;dvps35;vps35", "protein_name": "Vacuolar protein sorting-associated protein 35", "disease": [ { "disease_id": "DOID:0060897", "name": "Parkinson's disease 17", "description": "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13.", "url": "https://disease-ontology.org/term/DOID:0060897", "evidence": [ { "id": "0060897", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060897" } ], "weight": 0.0 }, { "disease_id": "DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "https://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", 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"UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "endosome to plasma membrane protein transport", "id": "GO:0099638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099638", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" } ], "cellular_component": [ { "name": "retromer, cargo-selective complex", "id": "GO:0030906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030906", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9W277", "url": "https://www.uniprot.org/uniprotkb/Q9W277" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q9W2R1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2R1-1" }, { "uniprot_canonical_ac": "Q9VKY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKY0", "url": "https://www.uniprot.org/uniprotkb/Q9VKY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 287, "chemical_mass": 31561.0, "gene_names": "Oser1;CG5056;Dmel\\CG5056;Dmel_CG5056", "protein_name": "Oxidative stress-responsive serine-rich protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY0", "url": "https://www.uniprot.org/uniprotkb/Q9VKY0" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY0", "url": "https://www.uniprot.org/uniprotkb/Q9VKY0" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY0", "url": "https://www.uniprot.org/uniprotkb/Q9VKY0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKY0-1" }, { "uniprot_canonical_ac": "Q9VKZ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKZ0", "url": "https://www.uniprot.org/uniprotkb/Q9VKZ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 842, "chemical_mass": 93332.0, "gene_names": "GATAd;CG5034;Dmel\\CG5034;Dmel_CG5034;GATAd;dGATA-D;dGATAd", "protein_name": "", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q9VKZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VKZ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VKZ7-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Thr153", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 153, "start_aa": "Thr", "end_pos": 153, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr153", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VKZ7", "database": "O-GlcNAc Database", "url": 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"database": "UniProtKB", "id": "Q9VL16", "url": "https://www.uniprot.org/uniprotkb/Q9VL16" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 156, "chemical_mass": 17309.0, "gene_names": "Fundc1;BEST:LD31953;CG5676;Dmel\\CG5676;Dmel_CG5676;FUNDC1;LD31953", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9VL16", "url": "https://www.uniprot.org/uniprotkb/Q9VL16" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q9VL16", "url": "https://www.uniprot.org/uniprotkb/Q9VL16" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q9VL16", "url": "https://www.uniprot.org/uniprotkb/Q9VL16" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9VL16", "url": "https://www.uniprot.org/uniprotkb/Q9VL16" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL16-1" }, { "uniprot_canonical_ac": "Q9VL24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1287, "chemical_mass": 143292.0, "gene_names": "Npc1a;CG5722;DmNPC;Dmel\\CG5722;Dmel_CG5722;NPC-1;NPC1a;NPC1;Npc1_Dm;Npc1a;Npc1;dNPC1a;dNPC1;dmNPC1;dncp1a;dnpc1a;npc1a;npc1", "protein_name": "", "disease": [ { "disease_id": "DOID:0070113", "name": "Niemann-Pick disease type C1", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.", "url": "https://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ], "weight": 0.0 }, { "disease_id": "DOID:14504", "name": "Niemann-Pick disease", "description": "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.", "url": "https://disease-ontology.org/term/DOID:14504", "evidence": [ { "id": "14504", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14504" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" } ], "biological_process": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "ecdysteroid biosynthetic process", "id": "GO:0045456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045456", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "molting cycle, chitin-based cuticle", "id": "GO:0007591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007591", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" }, { "name": "regulation of cholesterol transport", "id": "GO:0032374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032374", "evidence": [ { "database": "UniProtKB", "id": "Q9VL24", "url": "https://www.uniprot.org/uniprotkb/Q9VL24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL24-1" }, { "uniprot_canonical_ac": "Q9VL44-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL44", "url": "https://www.uniprot.org/uniprotkb/Q9VL44" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 382, "chemical_mass": 42519.0, "gene_names": "Spn31A;CG4804;Dmel\\CG4804;Dmel_CG4804;Spn31A", "protein_name": "", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "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:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that 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:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "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: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: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:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "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: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": 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progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.", "url": "https://disease-ontology.org/term/DOID:0050683", "evidence": [ { "id": "0050683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050683" } ], "weight": 0.0 }, { "disease_id": "DOID:0111015", "name": "Newfoundland cone-rod dystrophy", "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0111015", "evidence": [ { "id": "0111015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111015" } ], "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": 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"name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q9VM12", "url": "https://www.uniprot.org/uniprotkb/Q9VM12" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "Q9VM12", "url": "https://www.uniprot.org/uniprotkb/Q9VM12" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VM12", "url": "https://www.uniprot.org/uniprotkb/Q9VM12" } ], "pmid": "" } ], "biological_process": [ { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "Q9VM12", "url": "https://www.uniprot.org/uniprotkb/Q9VM12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM12-1" }, { "uniprot_canonical_ac": "Q9VM18-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM18", "url": "https://www.uniprot.org/uniprotkb/Q9VM18" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 276, "chemical_mass": 31253.0, "gene_names": "Tppl;21430192;28603684;CG5177;Dmel\\CG5177;Dmel_CG5177", "protein_name": "Trehalose 6-phosphate phosphatase", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VM18", "url": "https://www.uniprot.org/uniprotkb/Q9VM18" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VM18", "url": "https://www.uniprot.org/uniprotkb/Q9VM18" } ], "pmid": "" } ], "biological_process": [ { "name": "trehalose biosynthetic process", "id": "GO:0005992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005992", "evidence": [ { "database": "UniProtKB", "id": "Q9VM18", "url": "https://www.uniprot.org/uniprotkb/Q9VM18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM18-1" }, { "uniprot_canonical_ac": "Q9VM26-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 420, "chemical_mass": 47757.0, "gene_names": "Wnt6;CG4969;D-Wnt-6;DWnt-6;DWnt6;Dmel\\CG4969;Dmel_CG4969;Dwnt-6;Dwnt6;Wnt6;wnt6", "protein_name": "Protein Wnt", "disease": [], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" } ], "biological_process": [ { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" }, { "name": "developmental growth involved in morphogenesis", "id": "GO:0060560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060560", "evidence": [ { "database": "UniProtKB", "id": "Q9VM26", "url": "https://www.uniprot.org/uniprotkb/Q9VM26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM26-1" }, { "uniprot_canonical_ac": "Q9VM50-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 223, "chemical_mass": 24314.0, "gene_names": "Rab30;AAF52477;CG9100;DmRab30;Dmel\\CG9100;Dmel_CG9100;Q9VM50;Rab-30;Rab30;rab30", "protein_name": "Ras-related protein Rab-30", "disease": [], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "Golgi cisterna", "id": "GO:0031985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031985", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" } ], "biological_process": [ { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "Q9VM50", "url": "https://www.uniprot.org/uniprotkb/Q9VM50" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM50-1" }, { "uniprot_canonical_ac": "Q9VM77-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM77", "url": "https://www.uniprot.org/uniprotkb/Q9VM77" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 746, "chemical_mass": 80180.0, "gene_names": "sens-2;CG11243;CG17373;CG31632;D.m Sens-2;Dmel\\CG31632;Dmel_CG31632;Sens-2;sens-2;sens2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050590", "name": "severe congenital neutropenia", "description": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.", "url": "https://disease-ontology.org/term/DOID:0050590", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0111044", "name": "gray platelet syndrome", "description": "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.", "url": "https://disease-ontology.org/term/DOID:0111044", "evidence": [ { "id": "0111044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111044" } ], "weight": 0.0 }, { "disease_id": "DOID:0111049", "name": "platelet-type bleeding disorder 17", "description": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0111049", "evidence": [ { "id": "0111049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111049" } ], "weight": 0.0 }, { "disease_id": "DOID:0112131", "name": "severe congenital neutropenia 2", "description": "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1.", "url": "https://disease-ontology.org/term/DOID:0112131", "evidence": [ { "id": "0112131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112131" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "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": 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[7227]" } ], "length": 117, "chemical_mass": 12985.0, "gene_names": "BcDNA:RE59202;BcDNA:RE45259;CG12546;CG14452;Dmel\\CG12546;Dmel\\CG14452;Dmel_CG12546;Dmel_CG14452", "protein_name": "Protein new-glue 1-like", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNS4-1" }, { "uniprot_canonical_ac": "Q9VNT8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 305, "chemical_mass": 34266.0, "gene_names": "WUN-like;CG11425;Dmel\\CG11425;Dmel_CG11425;LPP-like;WUN-like", "protein_name": "Phosphatidic acid phosphatase type 2/haloperoxidase domain-containing protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" }, { "name": "phospholipid dephosphorylation", "id": "GO:0046839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046839", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidate phosphatase activity", "id": "GO:0008195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008195", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT8", "url": "https://www.uniprot.org/uniprotkb/Q9VNT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNT8-1" }, { "uniprot_canonical_ac": "Q9VNW2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNW2", "url": "https://www.uniprot.org/uniprotkb/Q9VNW2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 194, "chemical_mass": 21337.0, "gene_names": "Dmel\\CG14561;CG14561;Dmel\\CG14561;Dmel_CG14561", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNW2-1" }, { "uniprot_canonical_ac": "Q9VNX2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 568, "chemical_mass": 63326.0, "gene_names": "SLC22A;CG7442;DmSLC22A;Dmel\\CG7442;Dmel_CG7442;SLC22A;Slc22a15", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.", "url": "https://disease-ontology.org/term/DOID:14365", "evidence": [ { "id": "14365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14365" } ], "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: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:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "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: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 } ], "biological_process": [ { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, cholinergic", "id": "GO:0032223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032223", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" }, { "name": "regulation of olfactory learning", "id": "GO:0090328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090328", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" } ], "molecular_function": [ { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX2", "url": "https://www.uniprot.org/uniprotkb/Q9VNX2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNX2-1" }, { "uniprot_canonical_ac": "Q9VNX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNX4", "url": "https://www.uniprot.org/uniprotkb/Q9VNX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 574, "chemical_mass": 63667.0, "gene_names": "P5CDh1;CG7145;DmP5CDh1;Dmel\\CG7145;Dmel_CG7145;P5CDh1;P5CDh", "protein_name": "Multifunctional fusion protein", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0080543", "name": "hyperprolinemia type 2", "description": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080543", "evidence": [ { "id": "0080543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080543" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX4", "url": "https://www.uniprot.org/uniprotkb/Q9VNX4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX4", "url": "https://www.uniprot.org/uniprotkb/Q9VNX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-glutamate gamma-semialdehyde dehydrogenase activity", "id": "GO:0003842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003842", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX4", "url": "https://www.uniprot.org/uniprotkb/Q9VNX4" } ], "pmid": "" } ], "biological_process": [ { "name": "L-proline catabolic process to L-glutamate", "id": "GO:0010133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010133", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX4", "url": "https://www.uniprot.org/uniprotkb/Q9VNX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNX4-1" }, { "uniprot_canonical_ac": "Q9VNZ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 149, "chemical_mass": 17203.0, "gene_names": "Polr2H;CG11246;Dmel\\CG11246;Dmel_CG11246;Polr2H;RPB8;Rpb8", "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC3", "disease": [], "biological_process": [ { "name": "transcription by RNA polymerase I", "id": "GO:0006360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006360", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "tRNA transcription by RNA polymerase III", "id": "GO:0042797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042797", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase I", "id": "GO:0006362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006362", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription by RNA polymerase III", "id": "GO:0006383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006383", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "termination of RNA polymerase III transcription", "id": "GO:0006386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006386", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase III promoter", "id": "GO:0006384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006384", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase I promoter", "id": "GO:0006361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006361", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "nucleolar large rRNA transcription by RNA polymerase I", "id": "GO:0042790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042790", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "RNA polymerase II, core complex", "id": "GO:0005665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005665", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "RNA polymerase I complex", "id": "GO:0005736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005736", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" }, { "name": "RNA polymerase III complex", "id": "GO:0005666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005666", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-directed RNA polymerase activity", "id": "GO:0003899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003899", "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNZ3-1" }, { "uniprot_canonical_ac": "Q9VP00-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP00", "url": "https://www.uniprot.org/uniprotkb/Q9VP00" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 137, "chemical_mass": 14952.0, "gene_names": "Cpr78E;BcDNA:LP06027;CG7160;Cpi78E;Cpr78E;DmelCpr78E;Dmel\\CG7160;Dmel_CG7160", "protein_name": "", "disease": [], "molecular_function": [ { "name": "structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "Q9VP00", "url": "https://www.uniprot.org/uniprotkb/Q9VP00" } ], "pmid": "" } ], "biological_process": [ { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VP00", "url": "https://www.uniprot.org/uniprotkb/Q9VP00" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9VP00", "url": "https://www.uniprot.org/uniprotkb/Q9VP00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VP00-1" }, { "uniprot_canonical_ac": "Q9VP13-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 26781.0, "gene_names": "CRIF;CG7172;CRIF;Dmel\\CG7172;Dmel_CG7172;anon-WO0118547.316;dCRIF", "protein_name": "Large ribosomal subunit protein mL64", "disease": [ { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" } ], "biological_process": [ { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" }, { "name": "RNAi-mediated antiviral immune response", "id": "GO:0009616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009616", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9VP13", "url": "https://www.uniprot.org/uniprotkb/Q9VP13" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VP13-1" }, { "uniprot_canonical_ac": "Q9VP18-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 89, "chemical_mass": 10063.0, "gene_names": "VhaM9.7-b;ATP6V0M9.7-2;CG7625;Dmel\\CG7625;Dmel_CG7625;Vha M9.7-2;VhaM9.7-2;VhaM9.7-b;anon-WO0118547.551;vhaM9.2-2;vhaM9.7-2;vhaM9.7-b", "protein_name": "V-type proton ATPase subunit", "disease": [], "cellular_component": [ { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "pmid": "" }, { "name": "plasma membrane proton-transporting V-type ATPase complex", "id": "GO:0033181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033181", "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "pmid": "" } ], "molecular_function": [ { "name": "proton-transporting ATPase activity, rotational mechanism", "id": "GO:0046961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046961", "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "pmid": "" } ], "biological_process": [ { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VP18", "url": "https://www.uniprot.org/uniprotkb/Q9VP18" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VP18-1" }, { "uniprot_canonical_ac": "Q9VP20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP20", "url": "https://www.uniprot.org/uniprotkb/Q9VP20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 386, "chemical_mass": 43759.0, "gene_names": "Mkrn1;CG7184;Dmel\\CG7184;Dmel_CG7184;MKRN1;Mkrn1;mkrn1", "protein_name": "RING-type E3 ubiquitin transferase", "disease": [ { "disease_id": "DOID:0112309", "name": "central precocious puberty 2", "description": "A central precocious puberty 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assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC1", "url": "https://www.uniprot.org/uniprotkb/Q9VPC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPC1-1" }, { "uniprot_canonical_ac": "Q9VPD4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPD4", "url": "https://www.uniprot.org/uniprotkb/Q9VPD4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 163, "chemical_mass": 18180.0, "gene_names": "Dmel\\CG5104;BcDNA:RH26504;CG5104;Dmel\\CG5104;Dmel_CG5104", "protein_name": "Vesicle transport protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD4", "url": 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"residue": "Thr", "site_lbl": "Thr153", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VPF1-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Thr39", "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": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VPF1-1" }, { "uniprot_canonical_ac": "Q9VPF2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPF2", "url": 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"uniprot_canonical_ac": "Q9VPM3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPM3", "url": "https://www.uniprot.org/uniprotkb/Q9VPM3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 666, "chemical_mass": 77912.0, "gene_names": "Dmel\\CG3345;CG3345;Dmel\\CG3345;Dmel_CG3345;anon-WO0140519.207", "protein_name": "Fibrous sheath-interacting protein 2", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPM3-1" }, { "uniprot_canonical_ac": "Q9VPQ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ8", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 441, "chemical_mass": 49242.0, "gene_names": 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"https://www.uniprot.org/uniprotkb/Q9VQ29" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ29", "url": "https://www.uniprot.org/uniprotkb/Q9VQ29" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ29", "url": "https://www.uniprot.org/uniprotkb/Q9VQ29" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ29", "url": "https://www.uniprot.org/uniprotkb/Q9VQ29" } ], "pmid": "" }, { "name": "quinol-cytochrome-c reductase activity", "id": "GO:0008121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008121", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ29", "url": 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"disease_id": "DOID:0112076", "name": "nuclear type mitochondrial complex I deficiency 13", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3.", "url": "https://disease-ontology.org/term/DOID:0112076", "evidence": [ { "id": "0112076", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112076" } ], "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 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VR00", "url": "https://www.uniprot.org/uniprotkb/Q9VR00" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "Q9VR00", "url": "https://www.uniprot.org/uniprotkb/Q9VR00" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q9VR00", "url": "https://www.uniprot.org/uniprotkb/Q9VR00" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VR00", "url": "https://www.uniprot.org/uniprotkb/Q9VR00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR00-1" }, { "uniprot_canonical_ac": "Q9VR06-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 858, "chemical_mass": 97968.0, "gene_names": "FIG4;CG17840;Dmel\\CG17840;Dmel_CG17840;FIG4;Fig4;dFIG 4;dFIG4;dFig4", "protein_name": "", "disease": [ { "disease_id": "DOID:0060202", "name": "amyotrophic lateral sclerosis type 11", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.", "url": "https://disease-ontology.org/term/DOID:0060202", "evidence": [ { "id": "0060202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060202" } ], "weight": 0.0 }, { "disease_id": "DOID:0060589", "name": "Yunis-Varon syndrome", "description": "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. 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Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0110184", "evidence": [ { "id": "0110184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110184" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "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 } ], "molecular_function": [ { "name": "phosphatidylinositol bisphosphate phosphatase activity", "id": "GO:0034593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034593", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity", "id": "GO:0043813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043813", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" }, { "name": "PAS complex", "id": "GO:0070772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070772", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" } ], "biological_process": [ { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" }, { "name": "regulation of lysosome organization", "id": "GO:1905671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905671", "evidence": [ { "database": "UniProtKB", "id": "Q9VR06", "url": "https://www.uniprot.org/uniprotkb/Q9VR06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR06-1" }, { "uniprot_canonical_ac": "Q9VR28-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR28", "url": "https://www.uniprot.org/uniprotkb/Q9VR28" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 325, "chemical_mass": 36771.0, "gene_names": "Dmel\\CG15629;CG15629;Dmel\\CG15629;Dmel_CG15629", "protein_name": "Short-chain dehydrogenase/reductase family 16C member 6", "disease": [], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q9VR28", "url": "https://www.uniprot.org/uniprotkb/Q9VR28" } ], "pmid": "" } ], "molecular_function": [ { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q9VR28", "url": "https://www.uniprot.org/uniprotkb/Q9VR28" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q9VR28", "url": "https://www.uniprot.org/uniprotkb/Q9VR28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR28-1" }, { "uniprot_canonical_ac": "Q9VR38-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 528, "chemical_mass": 59834.0, "gene_names": "Mon1;CG11926;Dmel\\CG11926;Dmon1;MON1;Mon1;NP_608868;dMon1;mon1", "protein_name": "Vacuolar fusion protein MON1 homolog", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "Mon1-Ccz1 complex", "id": "GO:0035658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035658", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "endosome to lysosome transport via multivesicular body sorting pathway", "id": "GO:0032510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032510", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "late endosome to vacuole transport via multivesicular body sorting pathway", "id": "GO:0032511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032511", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "protein targeting to vacuole", "id": "GO:0006623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006623", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" }, { "name": "guanyl nucleotide exchange factor inhibitor activity", "id": "GO:1990624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990624", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VR38-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Trp334", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Reduced Rab5-dependent Mon1-Ccz1 complex GEF activity towards Rab7 on membranes but not in solution, possibly due to disruption of interaction with Rab5.", "evidence": [ { "database": "UniProtKB", "id": "Q9VR38", "url": "https://www.uniprot.org/uniprotkb/Q9VR38" }, { "database": "PubMed", "id": "37463208", "url": "https://glygen.org/publication/PubMed/37463208" } ] } ] } ], "record_id": "Q9VR38-1" }, { "uniprot_canonical_ac": "Q9VR43-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR43", "url": "https://www.uniprot.org/uniprotkb/Q9VR43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 349, "chemical_mass": 41761.0, "gene_names": "Dmel\\CG15625;CG15625;Dmel\\CG15625;Dmel_CG15625", "protein_name": "SAM domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR43-1" }, { "uniprot_canonical_ac": "Q9VR45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR45", "url": "https://www.uniprot.org/uniprotkb/Q9VR45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 255, "chemical_mass": 28171.0, "gene_names": "snsl;CG2837;Dmel\\CG2837;Dmel_CG2837;Snsl;snsl", "protein_name": "", "disease": [], "biological_process": [ { "name": "cuticle development", "id": "GO:0042335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042335", "evidence": [ { "database": "UniProtKB", "id": "Q9VR45", "url": "https://www.uniprot.org/uniprotkb/Q9VR45" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9VR45", "url": "https://www.uniprot.org/uniprotkb/Q9VR45" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR45-1" }, { "uniprot_canonical_ac": "Q9VR55-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR55", "url": "https://www.uniprot.org/uniprotkb/Q9VR55" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 241, "chemical_mass": 26582.0, "gene_names": "CT34370;ADP/ATP translocase;ATP translocase;CG14613;CT34370;Dmel\\CG14613;Dmel_CG14613", "protein_name": "DUF1279 domain-containing protein", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VR55", "url": "https://www.uniprot.org/uniprotkb/Q9VR55" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR55", "url": "https://www.uniprot.org/uniprotkb/Q9VR55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR55-1" }, { "uniprot_canonical_ac": "Q9VR80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR80", "url": "https://www.uniprot.org/uniprotkb/Q9VR80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 694, "chemical_mass": 75517.0, "gene_names": "Dmel\\CG17068;CG17068;Dmel\\CG17068;Dmel_CG17068", "protein_name": "BTB domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VR80", "url": "https://www.uniprot.org/uniprotkb/Q9VR80" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9VR80", "url": "https://www.uniprot.org/uniprotkb/Q9VR80" } ], "pmid": "" } ], "biological_process": [ { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": 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96, "chemical_mass": 11057.0, "gene_names": "Dmel\\CG11666;CG11666;Dmel\\CG11666;Dmel_CG11666", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRD2-1" }, { "uniprot_canonical_ac": "Q9VRE0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRE0", "url": "https://www.uniprot.org/uniprotkb/Q9VRE0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 713, "chemical_mass": 80669.0, "gene_names": "Stt3A;CG1518;Dmel\\CG1518;Dmel_CG1518;STT;Stt3A", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A", "disease": [ { "disease_id": "DOID:0080572", "name": "congenital disorder of glycosylation Iw", "description": "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and 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"protein_name": "Transmembrane 9 superfamily member", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN1", "url": "https://www.uniprot.org/uniprotkb/Q9VRN1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN1", "url": "https://www.uniprot.org/uniprotkb/Q9VRN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRN1-1" }, { "uniprot_canonical_ac": "Q9VRN3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRN3", "url": "https://www.uniprot.org/uniprotkb/Q9VRN3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } 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transfer activity", "id": "GO:0008526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008526", "evidence": [ { "database": "UniProtKB", "id": "Q9VRR3", "url": "https://www.uniprot.org/uniprotkb/Q9VRR3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRR3-1" }, { "uniprot_canonical_ac": "Q9VRS2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRS2", "url": "https://www.uniprot.org/uniprotkb/Q9VRS2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 474, "chemical_mass": 51499.0, "gene_names": "PVRAP;CG13292;CG32406;CG6062;Dmel\\CG32406;Dmel_CG32406;PVRAP", "protein_name": "", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS2", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 845, "chemical_mass": 96196.0, "gene_names": "D19A;CG10269;D19A;Dmel\\CG10269;Dmel_CG10269;d19a", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV5", "url": "https://www.uniprot.org/uniprotkb/Q9VRV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV5", "url": "https://www.uniprot.org/uniprotkb/Q9VRV5" } ], "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": "Q9VRV5", "url": "https://www.uniprot.org/uniprotkb/Q9VRV5" } ], "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": "Q9VRV5", "url": "https://www.uniprot.org/uniprotkb/Q9VRV5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VRV5", "url": "https://www.uniprot.org/uniprotkb/Q9VRV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRV5-1" }, { "uniprot_canonical_ac": "Q9VRW9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRW9", "url": "https://www.uniprot.org/uniprotkb/Q9VRW9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 404, 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domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ6" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9VRZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ6" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9VRZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VRZ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRZ6-1" }, { "uniprot_canonical_ac": "Q9VS07-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS07", "url": "https://www.uniprot.org/uniprotkb/Q9VS07" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 238, "chemical_mass": 27418.0, "gene_names": "Dmel\\CG17744;CG17744;Dmel\\CG17744;Dmel_CG17744", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS07-1" }, { "uniprot_canonical_ac": "Q9VS52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS52", "url": "https://www.uniprot.org/uniprotkb/Q9VS52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 407, "chemical_mass": 46021.0, "gene_names": "Dmel\\CG14834;CG14834;CT34650;Dmel\\CG14834;Dmel_CG14834", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS52-1" }, { "uniprot_canonical_ac": "Q9VS57-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 753, "chemical_mass": 85854.0, "gene_names": "Sec63;CG8583;Dmel\\CG8583;Dmel_CG8583;Sec63;anon-WO0118547.333;peg;sec63", "protein_name": "", "disease": [ { "disease_id": "DOID:0050770", "name": "polycystic liver disease", "description": "A liver disease that is characterized by the presence of multiple cysts located_in the liver.", "url": "https://disease-ontology.org/term/DOID:0050770", "evidence": [ { "id": "0050770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050770" } ], "weight": 0.0 }, { "disease_id": "DOID:0060975", "name": "polycystic liver disease 2", "description": "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0060975", "evidence": [ { "id": "0060975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060975" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "biological_process": [ { "name": "post-translational protein targeting to endoplasmic reticulum membrane", "id": "GO:0006620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006620", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" }, { "name": "SRP-dependent cotranslational protein targeting to membrane", "id": "GO:0006614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006614", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" }, { "name": "post-translational protein targeting to membrane, translocation", "id": "GO:0031204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031204", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" } ], "cellular_component": [ { "name": "rough endoplasmic reticulum membrane", "id": "GO:0030867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030867", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" }, { "name": "Sec62/Sec63 complex", "id": "GO:0031207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031207", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" }, { "name": "fusome", "id": "GO:0045169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "Q9VS57", "url": "https://www.uniprot.org/uniprotkb/Q9VS57" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VS57-1", "start_pos": "115", "end_pos": "115", "site_lbl": "Thr115", "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": 115, "start_aa": "Thr", "end_pos": 115, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr115", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VS57-1" }, { "uniprot_canonical_ac": "Q9VS67-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS67", "url": "https://www.uniprot.org/uniprotkb/Q9VS67" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 48054.0, "gene_names": "carboxypeptidase b1;CG18417;Dmel\\CG18417;Dmel_CG18417;carboxypeptidase b1", "protein_name": "Peptidase M14 domain-containing protein", "disease": [ { "disease_id": "DOID:0060752", "name": "familial temporal lobe epilepsy 5", "description": "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.", "url": "https://disease-ontology.org/term/DOID:0060752", "evidence": [ { "id": "0060752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060752" } ], "weight": 0.0 }, { "disease_id": "DOID:0111308", "name": "familial febrile seizures 11", "description": "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.", "url": "https://disease-ontology.org/term/DOID:0111308", "evidence": [ { "id": "0111308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111308" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "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:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": 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"database": "UniProtKB", "id": "Q9VS67", "url": "https://www.uniprot.org/uniprotkb/Q9VS67" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VS67", "url": "https://www.uniprot.org/uniprotkb/Q9VS67" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VS67", "url": "https://www.uniprot.org/uniprotkb/Q9VS67" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "Q9VS67", "url": "https://www.uniprot.org/uniprotkb/Q9VS67" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VS67-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Thr168", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 168, "start_aa": "Thr", "end_pos": 168, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr168", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VS67", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VS67" } ] } ] } ], "record_id": "Q9VS67-1" }, { "uniprot_canonical_ac": "Q9VS71-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 29003.0, "gene_names": "sphinx2;CG32382;CG8555;Dmel\\CG32382;Dmel_CG32382;SPH194b;SPH194;Sphinx2;Spx2;sphinx-2;sphinx2", "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": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "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": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" }, { "name": "Toll receptor ligand protein activation cascade", "id": "GO:0160032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160032", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VS71", "url": "https://www.uniprot.org/uniprotkb/Q9VS71" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS71-1" }, { "uniprot_canonical_ac": "Q9VSC5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSC5", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD8", "url": "https://www.uniprot.org/uniprotkb/Q9VSD8" } ], "pmid": "" }, { "name": "cysteamine dioxygenase activity", "id": "GO:0047800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047800", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD8", "url": "https://www.uniprot.org/uniprotkb/Q9VSD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSD8-1" }, { "uniprot_canonical_ac": "Q9VSH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSH0", "url": "https://www.uniprot.org/uniprotkb/Q9VSH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 40294.0, "gene_names": "BEST:CK00048;BEST:CK01174;CG7194;CK01174;Dmel\\CG7194;ck00048", "protein_name": "Cyclic GMP-AMP synthase-like 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"biological_process": [ { "name": "copper ion homeostasis", "id": "GO:0055070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055070", "evidence": [ { "database": "UniProtKB", "id": "Q9VSH0", "url": "https://www.uniprot.org/uniprotkb/Q9VSH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSH0-1" }, { "uniprot_canonical_ac": "Q9VSJ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 582, "chemical_mass": 65588.0, "gene_names": "Dmel\\CG13667;CG13667;Dmel\\CG13667;Dmel_CG13667", "protein_name": "NADPH-dependent diflavin oxidoreductase 1", "disease": [], "biological_process": [ { "name": "iron-sulfur cluster assembly", "id": "GO:0016226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016226", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H", "id": "GO:0016651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016651", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" }, { "name": "NADPH-iron-sulfur [2Fe-2S] protein oxidoreductase activity", "id": "GO:0160246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160246", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSJ5-1" }, { "uniprot_canonical_ac": "Q9VSJ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1169, "chemical_mass": 131635.0, "gene_names": "Oseg1;CG7161;DAF-10;Dmel\\CG7161;Dmel_CG7161;IFT122;OSEG1;OSEG;OSM-4;Oseg1;Wdr10;mecC;oseg1", "protein_name": "Intraflagellar transport protein 122 homolog", "disease": [ { "disease_id": "DOID:0080803", "name": "cranioectodermal dysplasia 1", "description": "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0080803", "evidence": [ { "id": "0080803", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080803" } ], "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 } ], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" }, { "name": "intraciliary retrograde transport", "id": "GO:0035721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035721", "evidence": [ { "database": "UniProtKB", "id": "Q9VSJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VSJ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSJ6-1" }, { "uniprot_canonical_ac": "Q9VSK2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 878, "chemical_mass": 94788.0, "gene_names": "Cbl;CBL;CG7037;CG7043;Cbl;D-Cbl L;D-CblL;D-Cbl;D-cblL;D-cblS;D-cbl;DCbl;Dcbl;Dmel\\CG7037;Dmel_CG7037;Dv-Cbl;Dv-cbl;F165;anon-WO0118547.68;cbl;d-cbl;dCbl;v-Cbl", "protein_name": "E3 ubiquitin-protein ligase CBL", "disease": [ { "disease_id": "DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes.", "url": "https://disease-ontology.org/term/DOID:0050458", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ], "weight": 0.0 }, { "disease_id": "DOID:0061162", "name": "infantile onset multisystem autoimmune disease 3", "description": "An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13.", "url": "https://disease-ontology.org/term/DOID:0061162", "evidence": [ { "id": "0061162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061162" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "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:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. 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cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphotyrosine residue binding", "id": "GO:0001784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": 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"Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "germ-line cyst formation", "id": "GO:0048134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048134", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "R7 cell fate commitment", "id": "GO:0007465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007465", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK2", "url": "https://www.uniprot.org/uniprotkb/Q9VSK2" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification, ovarian follicular epithelium", "id": "GO:0008069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008069", "evidence": [ { "database": 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ligase 4 complex", "id": "GO:0005958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005958", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ2" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ2" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "Q9VSZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VSZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSZ2-1" }, { "uniprot_canonical_ac": "Q9VT24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 268, "chemical_mass": 28654.0, "gene_names": "Dmel\\CG18179;BEST:LP02275;CG18179;Dmel\\CG18179;Dmel_CG18179;SP152", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VT24", "url": "https://www.uniprot.org/uniprotkb/Q9VT24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT24-1" }, { "uniprot_canonical_ac": "Q9VT38-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT38", "url": "https://www.uniprot.org/uniprotkb/Q9VT38" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 374, "chemical_mass": 42515.0, "gene_names": "Dmel\\CG18178;CG18178;Dmel\\CG18178;Dmel_CG18178", "protein_name": "", "disease": [], "cellular_component": [ { "name": "preribosome, large subunit precursor", "id": "GO:0030687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030687", "evidence": [ { "database": "UniProtKB", "id": "Q9VT38", "url": "https://www.uniprot.org/uniprotkb/Q9VT38" } ], "pmid": "" } ], "molecular_function": [ { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q9VT38", "url": "https://www.uniprot.org/uniprotkb/Q9VT38" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000463", "evidence": [ { "database": "UniProtKB", "id": "Q9VT38", "url": "https://www.uniprot.org/uniprotkb/Q9VT38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT38-1" }, { "uniprot_canonical_ac": "Q9VT73-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT73", "url": "https://www.uniprot.org/uniprotkb/Q9VT73" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 24331.0, "gene_names": "Dmel\\CG6685;CG6685;Dmel\\CG6685;Dmel_CG6685", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT73-1" }, { "uniprot_canonical_ac": "Q9VT94-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 511, "chemical_mass": 59531.0, "gene_names": "Dmel\\CG12362;AAN11912.1;CG12362;Dmel\\CG12362;Dmel_CG12362", "protein_name": "RBR-type E3 ubiquitin transferase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9VT94", "url": "https://www.uniprot.org/uniprotkb/Q9VT94" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": 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"" } ], "biological_process": [ { "name": "purine nucleotide metabolic process", "id": "GO:0006163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006163", "evidence": [ { "database": "UniProtKB", "id": "Q9VTB3", "url": "https://www.uniprot.org/uniprotkb/Q9VTB3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTB3-1" }, { "uniprot_canonical_ac": "Q9VTD2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTD2", "url": "https://www.uniprot.org/uniprotkb/Q9VTD2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 153, "chemical_mass": 17393.0, "gene_names": "BcDNA:RE16005;BcDNA:RE16005;CG14147;Dmel\\CG14147;Dmel_CG14147", "protein_name": "Histidine-rich glycoprotein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTD2-1" }, { "uniprot_canonical_ac": "Q9VTE1-1", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 291, "chemical_mass": 32307.0, "gene_names": "Dmel\\CG11726;CG11726;Dmel\\CG11726;Dmel_CG11726;cg11726", "protein_name": "RRM domain-containing protein", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH9", "url": "https://www.uniprot.org/uniprotkb/Q9VTH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTH9-1" }, { "uniprot_canonical_ac": "Q9VTJ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 540, "chemical_mass": 59293.0, "gene_names": "Dmel\\CG7512;CG7512;Dmel\\CG7512;Dmel_CG7512", "protein_name": "C2H2-type domain-containing protein", "disease": [ { "disease_id": "DOID:0060410", "name": "chromosome 1p36 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.", "url": "https://disease-ontology.org/term/DOID:0060410", "evidence": [ { "id": "0060410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060410" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "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": "Q9VTJ3", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTJ3-1" }, { "uniprot_canonical_ac": "Q9VTM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTM7", "url": "https://www.uniprot.org/uniprotkb/Q9VTM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 118, "chemical_mass": 12955.0, "gene_names": "DIGF-7;CG14132;DIGF-7;Dmel\\CG14132;Dmel_CG14132", "protein_name": "Single domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VTM7", "url": "https://www.uniprot.org/uniprotkb/Q9VTM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTM7-1" }, { "uniprot_canonical_ac": "Q9VTN7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 502, "chemical_mass": 56610.0, "gene_names": "Dmel\\CG10907;CG10907;Dmel\\CG10907;Dmel_CG10907", "protein_name": "Spliceosome-associated protein CWC27 homolog", "disease": [ { "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 } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "pmid": "" } ], "cellular_component": [ { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "Q9VTN7", "url": "https://www.uniprot.org/uniprotkb/Q9VTN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VTN7-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Thr120", "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": 120, "start_aa": "Thr", "end_pos": 120, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr120", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VTN7-1" }, { "uniprot_canonical_ac": "Q9VTP5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTP5", "url": "https://www.uniprot.org/uniprotkb/Q9VTP5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 381, "chemical_mass": 46101.0, "gene_names": "Dmel\\CG7264;CG7264;Dmel\\CG7264;Dmel_CG7264", "protein_name": "RIB43A-like with coiled-coils protein 2", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTP5-1" }, { "uniprot_canonical_ac": "Q9VTQ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 196, "chemical_mass": 23292.0, "gene_names": "BcDNA:AT16953;BcDNA:AT16953;CG5906;Dmel\\CG5906;Dmel_CG5906", "protein_name": "Mpv17-like protein 2", "disease": [ { "disease_id": "DOID:0080121", "name": "mitochondrial DNA depletion syndrome 3", "description": "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0080121", "evidence": [ { "id": "0080121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080121" } ], "weight": 0.0 }, { "disease_id": "DOID:0080125", "name": "mitochondrial DNA depletion syndrome 6", "description": "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.", "url": "https://disease-ontology.org/term/DOID:0080125", "evidence": [ { "id": "0080125", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080125" } ], "weight": 0.0 }, { "disease_id": "DOID:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "pmid": "" } ], "biological_process": [ { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q9VTQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VTQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTQ1-1" }, { "uniprot_canonical_ac": "Q9VTV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTV9", "url": "https://www.uniprot.org/uniprotkb/Q9VTV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 327, "chemical_mass": 35934.0, "gene_names": "Pbgs;CG10335;DmPBGS;Dmdelta-AlaD;Dmel\\CG10335;Dmel_CG10335;Pbgs;delta-ALA-D", "protein_name": "Delta-aminolevulinic acid dehydratase", "disease": [ { "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: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2352", "name": "hemochromatosis", "description": "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.", "url": "https://disease-ontology.org/term/DOID:2352", "evidence": [ { "id": "2352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2352" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VTV9", "url": "https://www.uniprot.org/uniprotkb/Q9VTV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VTV9", "url": "https://www.uniprot.org/uniprotkb/Q9VTV9" } ], "pmid": "" }, { "name": "porphobilinogen synthase activity", "id": 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"https://www.uniprot.org/uniprotkb/Q9VTY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 487, "chemical_mass": 53610.0, "gene_names": "Dmel\\CG10660;CG10660;Dmel\\CG10660;Dmel_CG10660", "protein_name": "C2 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTY0-1" }, { "uniprot_canonical_ac": "Q9VU24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VU24", "url": "https://www.uniprot.org/uniprotkb/Q9VU24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 439, "chemical_mass": 49076.0, "gene_names": "Dmel\\CG14118;CG14118;Dmel\\CG14118;Dmel_CG14118", "protein_name": "DNA/RNA non-specific endonuclease/pyrophosphatase/phosphodiesterase domain-containing protein", "disease": [], "cellular_component": 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"prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 362, "start_aa": "Thr", "end_pos": 362, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr362", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VV52", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VV52" } ] } ] } ], "record_id": "Q9VV52-1" }, { "uniprot_canonical_ac": "Q9VV71-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV71", "url": "https://www.uniprot.org/uniprotkb/Q9VV71" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 256, "chemical_mass": 27419.0, "gene_names": 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"centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q9VV90", "url": "https://www.uniprot.org/uniprotkb/Q9VV90" } ], "pmid": "" }, { "name": "axonemal central pair", "id": "GO:0097540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097540", "evidence": [ { "database": "UniProtKB", "id": "Q9VV90", "url": "https://www.uniprot.org/uniprotkb/Q9VV90" } ], "pmid": "" } ], "biological_process": [ { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9VV90", "url": "https://www.uniprot.org/uniprotkb/Q9VV90" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q9VV90", "url": "https://www.uniprot.org/uniprotkb/Q9VV90" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q9VV90", "url": "https://www.uniprot.org/uniprotkb/Q9VV90" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VV90-1" }, { "uniprot_canonical_ac": "Q9VV98-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV98", "url": "https://www.uniprot.org/uniprotkb/Q9VV98" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 541, "chemical_mass": 61832.0, "gene_names": "Dmel\\CG9701;CG9701;Dmel\\CG9701;Dmel_CG9701;klotho", "protein_name": "Cytosolic beta-glucosidase", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0111063", "name": "hyperphosphatemic familial tumoral calcinosis", "description": "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.", "url": "https://disease-ontology.org/term/DOID:0111063", "evidence": [ { "id": 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There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "weight": 0.0 }, { "disease_id": "DOID:2247", "name": "spondylosis", "description": "A bone structure disease that involves degeneration between vertebra located_in vertebral column.", "url": "https://disease-ontology.org/term/DOID:2247", "evidence": [ { "id": "2247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2247" } ], "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:4372", "name": "intracranial embolism", "description": "", "url": "https://disease-ontology.org/term/DOID:4372", "evidence": [ { "id": "4372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4372" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. 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} ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "90S preribosome", "id": "GO:0030686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030686", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" }, { "name": "endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000479", "evidence": [ { "database": "UniProtKB", "id": "Q9VVC9", "url": "https://www.uniprot.org/uniprotkb/Q9VVC9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVC9-1" }, { "uniprot_canonical_ac": "Q9VVD2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": "https://www.uniprot.org/uniprotkb/Q9VVD2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 715, "chemical_mass": 81501.0, "gene_names": "Fit2;CG7729;Cg7729;Dmel\\CG7729;Dmel_CG7729;Fit 2;Fit2;fit2", "protein_name": "", "disease": [ { "disease_id": "DOID:0060472", "name": "Kindler syndrome", "description": "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.", "url": "https://disease-ontology.org/term/DOID:0060472", "evidence": [ { "id": "0060472", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060472" } ], "weight": 0.0 }, { "disease_id": "DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.", "url": "https://disease-ontology.org/term/DOID:0110910", "evidence": [ { "id": "0110910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110910" } ], "weight": 0.0 }, { "disease_id": "DOID:0110912", "name": "leukocyte adhesion deficiency 3", "description": "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.", "url": "https://disease-ontology.org/term/DOID:0110912", "evidence": [ { "id": "0110912", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110912" } ], "weight": 0.0 }, { "disease_id": "DOID:1272", "name": "telangiectasis", "description": "", "url": "https://disease-ontology.org/term/DOID:1272", "evidence": [ { "id": "1272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1272" } ], "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:2731", "name": "vesiculobullous skin disease", "description": "A bullous skin disease that is characterized by fluid filled blisters.", "url": "https://disease-ontology.org/term/DOID:2731", "evidence": [ { "id": "2731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2731" } ], "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 } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": "https://www.uniprot.org/uniprotkb/Q9VVD2" } ], "pmid": "" } ], "biological_process": [ { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": "https://www.uniprot.org/uniprotkb/Q9VVD2" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": "https://www.uniprot.org/uniprotkb/Q9VVD2" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": "https://www.uniprot.org/uniprotkb/Q9VVD2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell-substrate junction", "id": "GO:0030055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030055", "evidence": [ { "database": "UniProtKB", "id": "Q9VVD2", "url": 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"https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVD3-1" }, { "uniprot_canonical_ac": "Q9VVE3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVE3", "url": "https://www.uniprot.org/uniprotkb/Q9VVE3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 398, "chemical_mass": 44819.0, "gene_names": "Dmel\\CG7724;CG7724;Dmel\\CG7724;Dmel_CG7724", "protein_name": "3-beta hydroxysteroid dehydrogenase/isomerase domain-containing protein", "disease": [ { "disease_id": "DOID:0111071", "name": "congenital bile acid synthesis defect 1", "description": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p.", "url": "https://disease-ontology.org/term/DOID:0111071", "evidence": [ { "id": "0111071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111071" } ], "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:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:12700", "name": "hyperprolactinemia", "description": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.", "url": "https://disease-ontology.org/term/DOID:12700", "evidence": [ { "id": "12700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12700" } ], "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: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:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VVE3", "url": "https://www.uniprot.org/uniprotkb/Q9VVE3" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity", "id": "GO:0003854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003854", "evidence": [ { "database": "UniProtKB", "id": "Q9VVE3", "url": "https://www.uniprot.org/uniprotkb/Q9VVE3" } ], "pmid": "" }, { "name": "steroid Delta-isomerase activity", "id": "GO:0004769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004769", "evidence": [ { "database": "UniProtKB", "id": "Q9VVE3", "url": "https://www.uniprot.org/uniprotkb/Q9VVE3" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0016616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016616", "evidence": [ { "database": "UniProtKB", "id": "Q9VVE3", "url": "https://www.uniprot.org/uniprotkb/Q9VVE3" } ], "pmid": "" } ], "biological_process": [ { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006376", "evidence": [ { "database": "UniProtKB", "id": "Q9VVI1", "url": "https://www.uniprot.org/uniprotkb/Q9VVI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVI1-1" }, { "uniprot_canonical_ac": "Q9VVK4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVK4", "url": "https://www.uniprot.org/uniprotkb/Q9VVK4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 520, "chemical_mass": 59292.0, "gene_names": "Adgf-B;ADGF-B;Adgf-B;AdgfB;CG5998;Dmel\\CG5998;Dmel_CG5998;adgfb", "protein_name": "Adenosine deaminase", "disease": [ { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. 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"UniProtKB", "id": "Q9VVQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVQ1-1" }, { "uniprot_canonical_ac": "Q9VVS2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVS2", "url": "https://www.uniprot.org/uniprotkb/Q9VVS2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 265, "chemical_mass": 28954.0, "gene_names": "Dmel\\CG12477;CG12477;Dmel\\CG12477;Dmel_CG12477", "protein_name": "RING-type E3 ubiquitin transferase", "disease": [ { "disease_id": "DOID:0112309", "name": "central precocious puberty 2", "description": "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2.", "url": "https://disease-ontology.org/term/DOID:0112309", "evidence": [ { "id": 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"database": "UniProtKB", "id": "Q9VVS2", "url": "https://www.uniprot.org/uniprotkb/Q9VVS2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS2", "url": "https://www.uniprot.org/uniprotkb/Q9VVS2" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS2", "url": "https://www.uniprot.org/uniprotkb/Q9VVS2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS2", "url": "https://www.uniprot.org/uniprotkb/Q9VVS2" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { 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"Q9VVV3-1" }, { "uniprot_canonical_ac": "Q9VVZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 122, "chemical_mass": 12010.0, "gene_names": "Dmel\\CG14096;CG14096;Dmel\\CG14096;Dmel_CG14096", "protein_name": "Cuticle protein 38-like", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVZ5-1" }, { "uniprot_canonical_ac": "Q9VVZ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVZ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 141, "chemical_mass": 13642.0, "gene_names": "Dmel\\CG18294;BcDNA:RE51966;CG18294;Dmel\\CG18294;Dmel_CG18294", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVZ7-1" }, { "uniprot_canonical_ac": "Q9VW08-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW08", "url": "https://www.uniprot.org/uniprotkb/Q9VW08" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 397, "chemical_mass": 46699.0, "gene_names": "Rcd7;CG14098;Dmel\\CG14098;Dmel_CG14098;Rcd7", "protein_name": "", "disease": [], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VW08", "url": "https://www.uniprot.org/uniprotkb/Q9VW08" } ], "pmid": "" }, { "name": "centrosome separation", "id": "GO:0051299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051299", "evidence": [ { "database": "UniProtKB", "id": "Q9VW08", "url": "https://www.uniprot.org/uniprotkb/Q9VW08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VW08-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Thr56", "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": 56, "start_aa": "Thr", "end_pos": 56, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr56", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VW08-1" }, { "uniprot_canonical_ac": "Q9VW22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1319, "chemical_mass": 147684.0, "gene_names": "l(3)76BDm;CG8793;Dmel\\CG8793;Dmel_CG8793;TRAPPC8;l(3)76BDm;l(3)L3809", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "pmid": "" }, { "name": "TRAPPIII protein complex", "id": "GO:1990072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990072", "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9VW22", "url": "https://www.uniprot.org/uniprotkb/Q9VW22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VW22-1", "start_pos": "1250", "end_pos": "1250", "site_lbl": "Thr1250", "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": 1250, "start_aa": "Thr", "end_pos": 1250, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1250", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VW22-1" }, { "uniprot_canonical_ac": "Q9VW35-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 652, "chemical_mass": 74251.0, "gene_names": "Trpml;CG42638;CG8743;CT25240;DmTRPML;Dmel\\CG42638;Dmel\\CG8743;Dmel_CG42638;Dmel_CG8743;TRPML;l(3)76BDi;noncoding_13567;trpml", "protein_name": "", "disease": [ { "disease_id": "DOID:0060450", "name": "Lisch epithelial corneal dystrophy", "description": "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.", "url": "https://disease-ontology.org/term/DOID:0060450", "evidence": [ { "id": "0060450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060450" } ], "weight": 0.0 }, { "disease_id": "DOID:0080490", "name": "mucolipidosis type IV", "description": "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time.", "url": "https://disease-ontology.org/term/DOID:0080490", "evidence": [ { "id": "0080490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080490" } ], "weight": 0.0 }, { "disease_id": "DOID:3343", "name": "glycoproteinosis", "description": "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).", "url": "https://disease-ontology.org/term/DOID:3343", "evidence": [ { "id": "3343", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3343" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" } ], "molecular_function": [ { "name": "NAADP-sensitive calcium-release channel activity", "id": "GO:0072345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072345", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "intracellularly ligand-gated monoatomic ion channel activity", "id": "GO:0005217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005217", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" }, { "name": "endolysosome membrane", "id": "GO:0036020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036020", "evidence": [ { "database": "UniProtKB", "id": "Q9VW35", "url": "https://www.uniprot.org/uniprotkb/Q9VW35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VW35-1" }, { "uniprot_canonical_ac": "Q9VW37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW37", "url": "https://www.uniprot.org/uniprotkb/Q9VW37" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1113, "chemical_mass": 124455.0, "gene_names": "SREBP;CG8522;Dmel\\CG8522;Dmel_CG8522;HLH106;HlH106;SREBF1;SREBP1;SREBP;Srebp;dSREBP;dSrebp;dsrebp;l(3)76BDw;srebp", "protein_name": "", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9455", "name": "lipid storage disease", "description": "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.", "url": "https://disease-ontology.org/term/DOID:9455", "evidence": [ { "id": "9455", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9455" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": 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Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. 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"name": "Carney-Stratakis syndrome", "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.", "url": "https://disease-ontology.org/term/DOID:0080533", "evidence": [ { "id": "0080533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080533" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "respiratory chain complex II (succinate dehydrogenase)", "id": "GO:0045273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045273", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" } ], "biological_process": [ { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "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": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": 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"GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "3 iron, 4 sulfur cluster binding", "id": "GO:0051538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051538", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q9VWN3", "url": "https://www.uniprot.org/uniprotkb/Q9VWN3" } ], "pmid": "" }, { "name": "succinate dehydrogenase (quinone) activity", 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