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"evidence": [ { "database": "UniProtKB", "id": "Q9W0B3", "url": "https://www.uniprot.org/uniprotkb/Q9W0B3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B3", "url": "https://www.uniprot.org/uniprotkb/Q9W0B3" } ], "pmid": "" } ], "cellular_component": [ { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B3", "url": "https://www.uniprot.org/uniprotkb/Q9W0B3" } ], "pmid": "" }, { "name": "ESCRT IV complex", "id": "GO:1990621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990621", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B3", "url": "https://www.uniprot.org/uniprotkb/Q9W0B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0B3-1" }, { "uniprot_canonical_ac": "Q9W0B8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1234, "chemical_mass": 139329.0, "gene_names": "alphaCOP;CG7961;Dmel\\CG7961;Dmel_CG7961;alpha-COP;alpha-Cop;alphaCOP;alphaCop", "protein_name": "Coatomer subunit alpha", "disease": [ { "disease_id": "DOID:0081242", "name": "autoimmune interstitial lung, joint, and kidney disease", "description": "An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0081242", "evidence": [ { "id": "0081242", "database": "AGR", "url": 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"database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "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": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "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": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" }, { "name": "protein localization to cleavage furrow", "id": "GO:1905345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905345", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9W0B8", "url": "https://www.uniprot.org/uniprotkb/Q9W0B8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0B8-1" }, { "uniprot_canonical_ac": "Q9W0D7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0D7", "url": "https://www.uniprot.org/uniprotkb/Q9W0D7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 34655.0, "gene_names": "Pex10;CG7864;DmelPex10;Dmel\\CG7864;Dmel_CG7864;PEX10;Pex10;pex10", "protein_name": "RING-type E3 ubiquitin transferase", "disease": [ { "disease_id": "DOID:0080481", "name": "peroxisome biogenesis disorder 6A", "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 341, "chemical_mass": 36950.0, "gene_names": "ru;CG1214;Dmel\\CG1214;Dmel_CG1214;Rho-3;Rho-related [62A1];Rho3;Ru;rho-3;rho3;ru", "protein_name": "rhomboid protease", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "plasma 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"protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "heart process", "id": "GO:0003015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003015", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "epidermal growth factor receptor ligand maturation", "id": "GO:0038004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038004", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" }, { "name": "compound eye 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"name": "leg disc proximal/distal pattern formation", "id": "GO:0007479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007479", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F8", "url": "https://www.uniprot.org/uniprotkb/Q9W0F8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0F8-1" }, { "uniprot_canonical_ac": "Q9W0I9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0I9", "url": "https://www.uniprot.org/uniprotkb/Q9W0I9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 311, "chemical_mass": 32122.0, "gene_names": "Dmel\\CG9192;CG9192;Dmel\\CG9192;Dmel_CG9192", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0I9-1" }, { "uniprot_canonical_ac": "Q9W0M3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, 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"Q9W1M2-1" }, { "uniprot_canonical_ac": "Q9W1Q0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1Q0", "url": "https://www.uniprot.org/uniprotkb/Q9W1Q0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 171, "chemical_mass": 19188.0, "gene_names": "SkpF;CG12227;Dmel\\CG12227;Dmel_CG12227;SkpF;Skp;skpF", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Q0", "url": "https://www.uniprot.org/uniprotkb/Q9W1Q0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Q0", "url": "https://www.uniprot.org/uniprotkb/Q9W1Q0" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase 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} ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S1", "url": "https://www.uniprot.org/uniprotkb/Q9W1S1" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S1", "url": "https://www.uniprot.org/uniprotkb/Q9W1S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1S1-1" }, { "uniprot_canonical_ac": "Q9W1S6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1S6", "url": "https://www.uniprot.org/uniprotkb/Q9W1S6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 172, "chemical_mass": 20135.0, "gene_names": 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"url": "https://www.uniprot.org/uniprotkb/Q9W1W4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 28890.0, "gene_names": "Dmel\\CG9896;CG9896;Dmel\\CG9896;Dmel_CG9896", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1W4-1" }, { "uniprot_canonical_ac": "Q9W1Z6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1136, "chemical_mass": 128949.0, "gene_names": "stl;BcDNA:GM08694;CG3622;Dmel\\CG3622;Dmel_CG3622;fs(2)A16;stl", "protein_name": "", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.", "url": "https://disease-ontology.org/term/DOID:0050784", "evidence": [ { "id": "0050784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ], "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:0060366", "name": "Hennekam syndrome", "description": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.", "url": "https://disease-ontology.org/term/DOID:0060366", "evidence": [ { "id": "0060366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ], "weight": 0.0 }, { "disease_id": "DOID:0080733", "name": "Ehlers-Danlos syndrome dermatosparaxis type", "description": "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.", "url": "https://disease-ontology.org/term/DOID:0080733", "evidence": [ { "id": "0080733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080733" } ], "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: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:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "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. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5200", "name": "urinary tract obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:5200", "evidence": [ { "id": "5200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5200" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "follicle cell of egg chamber stalk formation", "id": "GO:0030713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030713", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1Z6-1" }, { "uniprot_canonical_ac": "Q9W213-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1395, "chemical_mass": 151760.0, "gene_names": "robo1;BEST:GM07780;CG13521;CT32892;D-Robo1;Dmel\\CG13521;Dmel_CG13521;ROBO;Robo-1;Robo1;Robo;dRobo1;dRobo;robo-1;robo1S;robo1;robo;roundabout", "protein_name": "", "disease": [ { "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:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0061018", "name": "combined or isolated pituitary hormone deficiency 8", "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.", "url": "https://disease-ontology.org/term/DOID:0061018", "evidence": [ { "id": "0061018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061018" } ], "weight": 0.0 }, { "disease_id": "DOID:0061178", "name": "autosomal recessive congenital nystagmus 8", "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.", "url": "https://disease-ontology.org/term/DOID:0061178", "evidence": [ { "id": "0061178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061178" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "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: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: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: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:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:3721", "name": "plasmacytoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3721", "evidence": [ { "id": "3721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3721" } ], "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: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: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:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "entrainment of circadian clock", "id": "GO:0009649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009649", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "embryonic heart tube formation", "id": "GO:0003144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003144", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "neuron recognition", "id": "GO:0008038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008038", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "Roundabout signaling pathway", "id": "GO:0035385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035385", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "salivary gland boundary specification", "id": "GO:0007432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007432", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite guidance", "id": "GO:0070983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070983", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "photoreceptor cell axon guidance", "id": "GO:0072499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072499", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration, open tracheal system", "id": "GO:2000274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000274", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": 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"url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005231", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3G6-1" }, { "uniprot_canonical_ac": "Q9W3J6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3J6", "url": "https://www.uniprot.org/uniprotkb/Q9W3J6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 301, "chemical_mass": 33799.0, "gene_names": "Dmel\\CG17982;CG17982;Dmel\\CG17982;Dmel_CG17982", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3J6-1" }, { "uniprot_canonical_ac": "Q9W3M6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 300, "chemical_mass": 35233.0, "gene_names": "Dhdds;CG10778;DHDDS;Dhdds;Dmel\\CG10778;Dmel_CG10778", "protein_name": "Alkyl transferase", "disease": [ { "disease_id": "DOID:0080473", "name": "developmental delay and seizures with or without movement abnormalities", "description": "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080473", "evidence": [ { "id": "0080473", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080473" } ], "weight": 0.0 }, { "disease_id": "DOID:0110352", "name": "retinitis pigmentosa 59", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.", "url": "https://disease-ontology.org/term/DOID:0110352", "evidence": [ { "id": "0110352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110352" } ], "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 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" }, { "name": "dehydrodolichyl diphosphate synthase complex", "id": "GO:1904423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904423", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "biological_process": [ { "name": "dolichyl monophosphate biosynthetic process", "id": "GO:0043048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043048", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" }, { "name": "polyprenol biosynthetic process", "id": "GO:0016094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016094", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity", "id": "GO:0045547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045547", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3M6-1" }, { "uniprot_canonical_ac": "Q9W3S5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 313, "chemical_mass": 35247.0, "gene_names": "Dmel\\CG4615;CG4615;Dmel\\CG4615;Dmel_CG4615", "protein_name": "Monocyte to macrophage differentiation factor", "disease": [ { "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" }, { "name": "pore-forming activity", "id": "GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3S5-1" }, { "uniprot_canonical_ac": "Q9W3W0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1123, "chemical_mass": 124673.0, "gene_names": "iav;CG4536;CT14708;DmIav;Dmel\\CG4536;Dmel_CG4536;IAV;Iav;TRPV;hypoB;iav;osm-9", "protein_name": "", "disease": [ { "disease_id": "DOID:0110182", "name": "Charcot-Marie-Tooth disease axonal type 2C", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0110182", "evidence": [ { "id": "0110182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110182" } ], "weight": 0.0 }, { "disease_id": "DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0110555", "evidence": [ { "id": "0110555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110555" } ], "weight": 0.0 }, { "disease_id": "DOID:0111215", "name": "autosomal dominant distal hereditary motor neuronopathy 8", "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111215", "evidence": [ { "id": "0111215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111215" } ], "weight": 0.0 }, { "disease_id": "DOID:0111514", "name": "metatropic dysplasia", "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111514", "evidence": [ { "id": "0111514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111514" } ], "weight": 0.0 }, { "disease_id": "DOID:0111539", "name": "parastremmatic dwarfism", "description": "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111539", "evidence": [ { "id": "0111539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111539" } ], "weight": 0.0 }, { "disease_id": "DOID:0111552", "name": "scapuloperoneal spinal muscular atrophy", "description": "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111552", "evidence": [ { "id": "0111552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111552" } ], "weight": 0.0 }, { "disease_id": "DOID:0111553", "name": "spondyloepiphyseal dysplasia Maroteaux type", "description": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111553", "evidence": [ { "id": "0111553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111553" } ], "weight": 0.0 }, { "disease_id": "DOID:0111554", "name": "spondylometaphyseal dysplasia Kozlowski type", "description": "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111554", "evidence": [ { "id": "0111554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111554" } ], "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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "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 } ], "biological_process": [ { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception", "id": "GO:0050974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050974", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "thermosensory behavior", "id": "GO:0040040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040040", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "negative gravitaxis", "id": "GO:0048060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048060", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", 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"length": 700, "chemical_mass": 78665.0, "gene_names": "Cdc7;CG32742;CG8655;CG8656;CT25076;Cdc7;Dmel\\CG32742;L(1)G0148;anon-WO03040301.250;cdc7-related;cdc7;l(1)G0148;l(1)G0149;l(1)G0461", "protein_name": "non-specific serine/threonine protein kinase Cdc7", "disease": [], "biological_process": [ { "name": "mitotic DNA damage checkpoint signaling", "id": "GO:0044773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044773", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": 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"Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "histone kinase activity", "id": "GO:0035173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035173", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", 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"CG15892;CG15891;CG15892;CG32918;Dmel\\CG15891;Dmel_CG15891", "protein_name": "UMA domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W411-1" }, { "uniprot_canonical_ac": "Q9W413-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 544, "chemical_mass": 62156.0, "gene_names": "mldr;CG15896;Dmel\\CG15896;MRPP3;PRORP;mldr", "protein_name": "Mitochondrial ribonuclease P catalytic subunit", "disease": [ { "disease_id": "DOID:0070427", "name": "combined oxidative phosphorylation deficiency 54", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.", "url": 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"GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "pmid": "" }, { "name": "ribonuclease P activity", "id": "GO:0004526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004526", "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA 5'-leader removal", "id": "GO:0001682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001682", "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "pmid": "" }, { "name": "mitochondrial tRNA processing", "id": "GO:0090646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090646", "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "pmid": "" }, { "name": "mitochondrial tRNA 5'-end processing", "id": 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Larvae also display reduced levels of ATP, abnormal neuroblast mitochondrial morphology, and the accumulation of unprocessed mitochondrial tRNAs transcripts for tRNA(Ile), tRNA(Gly), tRNA(Val) and tRNA(Leu) (CUN).", "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" }, { "database": "PubMed", "id": "27131785", "url": "https://glygen.org/publication/PubMed/27131785" } ] } ] } ], "record_id": "Q9W413-1" }, { "uniprot_canonical_ac": "Q9W437-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1621, "chemical_mass": 177182.0, "gene_names": "raptor;4320;CG4320;Dmel\\CG4320;Dmel_CG4320;Raptor;dRAPTOR;dRaptor;dRap;raptor/CG4320;raptor", "protein_name": "", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" }, { "name": "TORC1 complex", "id": "GO:0031931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031931", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", 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"Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": "https://www.uniprot.org/uniprotkb/Q9W437" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9W437", "url": 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"https://www.uniprot.org/uniprotkb/Q9W5X5" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9W5X5", "url": "https://www.uniprot.org/uniprotkb/Q9W5X5" } ], "pmid": "" } ], "molecular_function": [ { "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": "Q9W5X5", "url": "https://www.uniprot.org/uniprotkb/Q9W5X5" } ], "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": "Q9W5X5", "url": "https://www.uniprot.org/uniprotkb/Q9W5X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W5X5-1" }, { "uniprot_canonical_ac": "Q9XTP7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 719, "chemical_mass": 77719.0, "gene_names": "jumu;5295;CG4029;Dmel\\CG4029;Dmel_CG4029;Dmjumu;Dom;Dwhn;E(var)631;FoxN14;Jumeau;Jumu;Scim31;Whn;jumeaux;jumu/Dom;jumu;l(3)06142;l(3)06439", "protein_name": "", "disease": [ { "disease_id": "DOID:0060769", "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "description": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.", "url": "https://disease-ontology.org/term/DOID:0060769", "evidence": [ { "id": "0060769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060769" } ], "weight": 0.0 }, { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "weight": 0.0 }, { "disease_id": "DOID:2012", "name": "Nezelof syndrome", "description": "A T cell deficiency that results from the disfunction or underdevelopment of the thymus.", "url": "https://disease-ontology.org/term/DOID:2012", "evidence": [ { "id": "2012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2012" } ], "weight": 0.0 }, { "disease_id": "DOID:4123", "name": "nail disease", "description": "An integumentary system disease that is located_in nail.", "url": "https://disease-ontology.org/term/DOID:4123", "evidence": [ { "id": "4123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4123" } ], "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:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nucleolus organization", "id": "GO:0007000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007000", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "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": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" }, { "name": "polytene chromosome chromocenter", "id": "GO:0005701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005701", "evidence": [ { "database": "UniProtKB", "id": "Q9XTP7", "url": "https://www.uniprot.org/uniprotkb/Q9XTP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9XTP7-1" }, { "uniprot_canonical_ac": "Q9XYZ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 620, "chemical_mass": 69285.0, "gene_names": "mre11;16928;CG16928;Dmel\\CG16928;Dmel_CG16928;MRE11;Mre11;dMre11;mre11", "protein_name": "Double-strand break repair protein", "disease": [ { "disease_id": "DOID:0081384", "name": "ataxia-telangiectasia-like disorder 1", "description": "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.", "url": "https://disease-ontology.org/term/DOID:0081384", "evidence": [ { "id": "0081384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081384" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "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: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:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "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:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "url": "https://disease-ontology.org/term/DOID:4159", "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ], "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 } ], "molecular_function": [ { "name": "3'-5'-DNA exonuclease activity", "id": "GO:0008296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008296", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": "https://www.uniprot.org/uniprotkb/Q9XYZ4" } ], "pmid": "" }, { "name": "Mre11 complex", "id": "GO:0030870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030870", "evidence": [ { "database": "UniProtKB", "id": "Q9XYZ4", "url": 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"Zasp52;CG12968;CG12969;CG30084;CG8242;Dmel\\CG30084;Dmel_CG30084;Z(210);ZASP52;ZASP;Zasp52;Zasp;Zbp210;dzasp;tun;zasp52;zasp", "protein_name": "PDZ and LIM domain protein Zasp", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080092", "name": "myofibrillar myopathy 1", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:0080092", "evidence": [ { "id": "0080092", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080092" } ], "weight": 0.0 }, { 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"A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], 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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": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1ZA47-1" }, { "uniprot_canonical_ac": "P91623-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P91623", "url": "https://www.uniprot.org/uniprotkb/P91623" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 50634.0, "gene_names": "grn;CG9656-PA;CG9656;Dmel\\CG9656;Dmel_CG9656;GATAc;GRAIN;Gata-c;Gata2;Grn;dGATA-2;dGATAc;dGatac;gra;grn;l(3)84Fa", "protein_name": "GATA-binding factor C", "disease": [ { "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: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:0060348", "name": "hypoparathyroidism-retardation-dysmorphism syndrome", 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"alpha-Man-IIa;-Man-II;CG18474;CG18802;CG8139;DM-GII.1;Dmel\\CG18802;Dmel_CG18802;GMII;GmII;MAN-2;Man-II;Man;agr:-Man-II;agr;alpha-Man-IIA;alpha-Man-IIalpha;alpha-Man-IIa;alpha-Man-II;dGMIIb;dGMII", "protein_name": "Alpha-mannosidase 2", "disease": [ { "disease_id": "DOID:1338", "name": "congenital dyserythropoietic anemia", "description": "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.", "url": "https://disease-ontology.org/term/DOID:1338", "evidence": [ { "id": "1338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1338" } ], "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": 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53E;PKC-53B;PKC-53E;PKC1;PKC53E;PKC53e;PKC;Pkc1;Pkc53E;dPKC53E(br);dPKC;pck53E;pkc53E;pkc53e", "protein_name": "Protein kinase C, brain isozyme", "disease": [ { "disease_id": "DOID:0050964", "name": "spinocerebellar ataxia 14", "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.", "url": "https://disease-ontology.org/term/DOID:0050964", "evidence": [ { "id": "0050964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050964" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3774", "name": "chordoid glioma", "description": "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.", "url": "https://disease-ontology.org/term/DOID:3774", "evidence": [ { "id": "3774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3774" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "calcium,diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004698", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P05130-1" }, { "uniprot_canonical_ac": "Q03427-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03427", "url": "https://www.uniprot.org/uniprotkb/Q03427" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 621, "chemical_mass": 69860.0, "gene_names": "LamC;CG10119;DmC;Dmel\\CG10119;Dmel_CG10119;G-IF;LAMC;LamC;lamC;lamin C;pG-IF", "protein_name": "Lamin-C", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.", "url": "https://disease-ontology.org/term/DOID:0050557", "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ], "weight": 0.0 }, { "disease_id": "DOID:0050820", "name": "atrioventricular block", "description": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.", "url": "https://disease-ontology.org/term/DOID:0050820", "evidence": [ { "id": "0050820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050820" } ], "weight": 0.0 }, { "disease_id": "DOID:0051037", "name": "autosomal dominant primary microcephaly 26", "description": "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0051037", "evidence": [ { "id": "0051037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051037" } ], "weight": 0.0 }, { "disease_id": "DOID:0051038", "name": "autosomal dominant primary microcephaly 27", "description": "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0051038", "evidence": [ { "id": "0051038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060785", "name": "typical adult-onset autosomal dominant demyelinating leukodystrophy", "description": "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.", "url": "https://disease-ontology.org/term/DOID:0060785", "evidence": [ { "id": "0060785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060785" } ], "weight": 0.0 }, { "disease_id": "DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0070202", "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ], "weight": 0.0 }, { "disease_id": "DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070247", "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ], "weight": 0.0 }, { "disease_id": "DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070248", "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ], "weight": 0.0 }, { "disease_id": "DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070370", "evidence": [ { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ], "weight": 0.0 }, { "disease_id": "DOID:0080299", "name": "partial lipodystrophy", "description": "A lipodystrophy that is characterized by partial loss of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:0080299", "evidence": [ { "id": "0080299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080299" } ], "weight": 0.0 }, { "disease_id": "DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0080334", "evidence": [ { "id": "0080334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ], "weight": 0.0 }, { "disease_id": "DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.", "url": "https://disease-ontology.org/term/DOID:0081128", "evidence": [ { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ], "weight": 0.0 }, { "disease_id": "DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110156", "evidence": [ { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ], "weight": 0.0 }, { "disease_id": "DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0110425", 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"evidence": [ { "id": "0111450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111450" } ], "weight": 0.0 }, { "disease_id": "DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111584", "evidence": [ { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ], "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:11712", "name": "lipoatrophic diabetes 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 739, "chemical_mass": 82014.0, "gene_names": "Mitofilin;A0A0B4KGN2;CG 6455;CG6455;Dmel\\CG6455;Dmel_CG6455;MIC60;Mitofilin;dIMMT;dMIC60;dMic60;mitofilin", "protein_name": "MICOS complex subunit Mic60", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P91928", "url": "https://www.uniprot.org/uniprotkb/P91928" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P91928", "url": "https://www.uniprot.org/uniprotkb/P91928" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P91928", "url": 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 561, "start_aa": "Thr", "end_pos": 561, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr561", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "P91928-1" }, { "uniprot_canonical_ac": "P25724-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 401, "chemical_mass": 43428.0, "gene_names": "nanos;CG5637;DRONANOS;Dmel\\CG5637;Dmel_CG5637;Dronanos;NANOS;NOS;Nanos;Nos;l(3)07117;l(3)j3B6;l(3)j4B6;nNOS;nanos;nos", "protein_name": "Protein nanos", "disease": [ { "disease_id": "DOID:0070171", "name": "spermatogenic failure 12", "description": "A spermatogenic failure that is characterized by 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"database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "anterior/posterior axis specification, embryo", "id": "GO:0008595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008595", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "oocyte anterior/posterior axis specification", "id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "negative regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045886", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" } ], "cellular_component": [ { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "neuronal ribonucleoprotein granule", "id": "GO:0071598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071598", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "pole plasm", "id": "GO:0045495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045495", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "postsynapse of neuromuscular junction", "id": "GO:0098975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098975", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P25724", "url": "https://www.uniprot.org/uniprotkb/P25724" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P25724-1", "start_pos": "319", 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"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": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z9N0-1" }, { "uniprot_canonical_ac": "P35004-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 25693.0, "gene_names": "betaTry;BetaTry;CG18211;DmBetaTry;Dmel\\CG18211;Dmel_CG18211;SP119;Try;betaTry;beta", "protein_name": "Trypsin beta", "disease": [ { "disease_id": "DOID:0110057", "name": "amelogenesis imperfecta type 2A1", "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110057", "evidence": [ { "id": "0110057", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110057" } ], "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:1612", "name": "breast cancer", "description": "An organ system 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"url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P35004-1" }, { "uniprot_canonical_ac": "P47948-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P47948-1" }, { "uniprot_canonical_ac": "A8DYE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2023, "chemical_mass": 225538.0, "gene_names": "Trpm;BcDNA:GH04950;CG16805;CG30078;CG30079;CG34123;CG34187;CG44240;DmTRPM;Dmel\\CG44240;Dmel_CG44240;TRPM;TrpM;Trpm;dTRPM;mdcds_11815;trpm", "protein_name": "Transient receptor potential cation channel trpm", "disease": [ { "disease_id": "DOID:0050534", "name": "congenital stationary night blindness", "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0050824", "name": "sinoatrial node disease", "description": "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.", "url": "https://disease-ontology.org/term/DOID:0050824", "evidence": [ { "id": "0050824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050824" } ], "weight": 0.0 }, { "disease_id": "DOID:0060246", "name": "MASA syndrome", "description": "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.", "url": "https://disease-ontology.org/term/DOID:0060246", "evidence": [ { "id": "0060246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060246" } ], "weight": 0.0 }, { "disease_id": "DOID:0060394", "name": "chromosome 15q13.3 microdeletion syndrome", "description": "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.", "url": "https://disease-ontology.org/term/DOID:0060394", "evidence": [ { "id": "0060394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060394" } ], "weight": 0.0 }, { "disease_id": "DOID:0060883", "name": "intestinal hypomagnesemia 1", "description": "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.", "url": "https://disease-ontology.org/term/DOID:0060883", "evidence": [ { "id": "0060883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060883" } ], "weight": 0.0 }, { "disease_id": "DOID:0110867", "name": "congenital stationary night blindness 1C", "description": "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.", "url": "https://disease-ontology.org/term/DOID:0110867", "evidence": [ { "id": "0110867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110867" } ], "weight": 0.0 }, { "disease_id": "DOID:0111246", "name": "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", "description": "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.", "url": "https://disease-ontology.org/term/DOID:0111246", "evidence": [ { "id": "0111246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111246" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:896", "name": "metal metabolism disorder", "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.", "url": "https://disease-ontology.org/term/DOID:896", "evidence": [ { "id": "896", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:896" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity", "id": "GO:0097682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097682", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" } ], "biological_process": [ { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "intracellular zinc ion 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"UniProtKB", "id": "A1ZBH7", "url": "https://www.uniprot.org/uniprotkb/A1ZBH7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1218, "chemical_mass": 132396.0, "gene_names": "hppy;CG7097/hppy;CG7097;Dmel\\CG7097;Dmel_CG7097;EP-704;GLK/KHS1;Hppy;KHS1;MAP4K3;anon-WO0153538.68;hppy;l(2)SH1261;l(2)SH2 1261", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of 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"cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q06943", "url": "https://www.uniprot.org/uniprotkb/Q06943" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q06943", "url": "https://www.uniprot.org/uniprotkb/Q06943" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q06943", "url": "https://www.uniprot.org/uniprotkb/Q06943" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q06943-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q06943", "url": "https://www.uniprot.org/uniprotkb/Q06943" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q06943", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06943" } ] } ] } ], "record_id": "Q06943-1" }, { "uniprot_canonical_ac": "P10627-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 490, "chemical_mass": 54422.0, "gene_names": "twi;CG2956;DTwist;Dmel\\CG2956;Dmel_CG2956;EC9;TWI;Twist;Twi;Tw;bHLHb17;dip5;twi", "protein_name": "Protein twist", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0060549", "name": "Barber-Say syndrome", "description": "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060549", "evidence": [ { "id": "0060549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060549" } ], "weight": 0.0 }, { "disease_id": "DOID:0060550", "name": "ablepharon macrostomia syndrome", "description": "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060550", "evidence": [ { "id": "0060550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060550" } ], "weight": 0.0 }, { "disease_id": "DOID:0061010", "name": "craniosynostosis 1", "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0061010", "evidence": [ { "id": "0061010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061010" } ], "weight": 0.0 }, { "disease_id": "DOID:0080538", "name": "Sweeney-Cox syndrome", "description": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0080538", "evidence": [ { "id": "0080538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080538" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "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: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: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: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 } ], "biological_process": [ { "name": "regulation of striated muscle tissue development", "id": "GO:0016202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016202", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesodermal cell fate specification", "id": "GO:0007501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007501", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesodermal cell fate commitment", "id": "GO:0001710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001710", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "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": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "heart 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"id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "ectoderm and mesoderm interaction", "id": "GO:0007499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007499", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": 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} ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "P21519", "url": "https://www.uniprot.org/uniprotkb/P21519" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P21519", "url": "https://www.uniprot.org/uniprotkb/P21519" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P21519", "url": "https://www.uniprot.org/uniprotkb/P21519" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P21519", "url": 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"P16911-1" }, { "uniprot_canonical_ac": "A0A0C4DHF9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 290, "chemical_mass": 31655.0, "gene_names": "Eglp2;Aqp17664;CG17664;Dmel\\CG17664;Dmel_CG17664;Eglp 2;Eglp2", "protein_name": "", "disease": [ { "disease_id": "DOID:0080122", "name": "Alpers-Huttenlocher syndrome", "description": "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.", "url": 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"url": "https://disease-ontology.org/term/DOID:0110251", "evidence": [ { "id": "0110251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110251" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111707", "name": "Bothnian type palmoplantar keratoderma", "description": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure 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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:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to 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"disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "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:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "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:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 }, { "disease_id": "DOID:9428", "name": "intracranial hypertension", "description": "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.", "url": "https://disease-ontology.org/term/DOID:9428", "evidence": [ { "id": "9428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9428" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" } 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"name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion, centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": 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"molecular_function": [ { "name": "SMC family protein binding", "id": "GO:0043221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043221", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B6JUP5-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "B6JUP5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B6JUP5" } ] } ] }, { "uniprot_canonical_ac": "B6JUP5-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "B6JUP5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B6JUP5" } ] } ] } ], "record_id": "B6JUP5-1" }, { "uniprot_canonical_ac": "M9MSG8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MSG8", "url": "https://www.uniprot.org/uniprotkb/M9MSG8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2551, "chemical_mass": 289447.0, "gene_names": "Piezo;CG18103;CG31608;CG44122;CG8486;DmPIEZO;DmPiezo;Dmel\\CG44122;Dmel_CG44122;Dmpiezo;OrfKD;Piezo;anon-EST:Liang-1.32;clone 1.32;fos28F;fos500;piezo", "protein_name": "Piezo-type 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140492", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" } ], "cellular_component": [ { "name": "eukaryotic 43S preinitiation complex", "id": "GO:0016282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016282", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic 48S preinitiation complex", "id": "GO:0033290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033290", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex, eIF3m", "id": "GO:0071541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071541", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6K7-1" }, { "uniprot_canonical_ac": "A1Z6L1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 340, "chemical_mass": 36983.0, "gene_names": "tomboy40;CG8330;Dmel\\CG8330;Tomboy40;tomboy40", "protein_name": "Mitochondrial import receptor subunit TOM40 homolog 2", "disease": [ { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic 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"id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane translocase complex", "id": "GO:0005742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005742", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "molecular_function": [ { "name": "porin activity", "id": "GO:0015288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015288", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6L1-1" }, { "uniprot_canonical_ac": "A1Z713-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z713", "url": "https://www.uniprot.org/uniprotkb/A1Z713" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 3321, "chemical_mass": 374545.0, "gene_names": "Vps13;BEST:LD02743;CG2093;Dmel\\CG2093;Vps13", "protein_name": "Intermembrane lipid transfer protein Vps13", "disease": [ { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050766", "name": "choreaacanthocytosis", "description": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the 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intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.", "url": "https://disease-ontology.org/term/DOID:0111590", "evidence": [ { "id": "0111590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111590" } ], "weight": 0.0 }, { "disease_id": "DOID:0111611", "name": "autosomal recessive spinocerebellar ataxia 4", "description": "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21.", "url": "https://disease-ontology.org/term/DOID:0111611", "evidence": [ { "id": "0111611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111611" } ], "weight": 0.0 }, { "disease_id": "DOID:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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 } ], "biological_process": [ { "name": "protein retention in Golgi apparatus", "id": "GO:0045053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045053", "evidence": [ { "database": "UniProtKB", "id": "A1Z713", "url": 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"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": 920, "start_aa": "Thr", "end_pos": 920, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr920", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1Z713-1" }, { "uniprot_canonical_ac": "A1Z784-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2482, "chemical_mass": 278596.0, "gene_names": "Acc;A1Z784_DROME;ACC;ACoT;Acc;CG11198;CG8723;DmACC;Dmel\\CG11198;Dmel_CG11198;FBgn0043811;acc;dACC", "protein_name": "", "disease": [ { "disease_id": "DOID:0060404", "name": "chromosome 17q12 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.", "url": "https://disease-ontology.org/term/DOID:0060404", "evidence": [ { "id": "0060404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060404" } ], "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": 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"https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "biotin carboxylase activity", "id": "GO:0004075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004075", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" } ], "biological_process": [ { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": 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"NAD+-protein-lysine ADP-ribosyltransferase activity", "id": "GO:0140804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140804", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network", "id": "GO:0071782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071782", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAG4-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Tyr199", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes Sec body formation.", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" }, { "database": "PubMed", "id": "27874829", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "A1ZAK1", "url": "https://www.uniprot.org/uniprotkb/A1ZAK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAK1-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Thr92", "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": 92, "start_aa": "Thr", "end_pos": 92, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr92", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1ZAK1-1" }, { "uniprot_canonical_ac": "A1ZAK8-1", "species": [ { "name": "Drosophila melanogaster", 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"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: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial 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"https://disease-ontology.org/term/DOID:0070229", "evidence": [ { "id": "0070229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070229" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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"https://www.alliancegenome.org/disease/DOID:0080797" } ], "weight": 0.0 }, { "disease_id": "DOID:0110893", "name": "inflammatory bowel disease 13", "description": "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.", "url": "https://disease-ontology.org/term/DOID:0110893", "evidence": [ { "id": "0110893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110893" } ], "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:10939", "name": "antisocial personality disorder", "description": "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that 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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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "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: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP-binding cassette (ABC) transporter complex", "id": "GO:0043190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "renal tubular secretion", "id": "GO:0097254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097254", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00449-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q00449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00449#ptm_processing" } ] } ] } ], "record_id": "Q00449-1" }, { "uniprot_canonical_ac": "P49869-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1073, "chemical_mass": 116992.0, "gene_names": "Hr38;38E.3;38E.7;CG1864;DHR38;Dhr38;Dmel\\CG1864;Dmel_CG1864;HR38;Hr38;NR4A4;dHR38;dhr38;hr38;l(2)02306", "protein_name": "Probable nuclear hormone receptor HR38", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:4549", "name": "extraskeletal myxoid chondrosarcoma", "description": "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.", "url": "https://disease-ontology.org/term/DOID:4549", "evidence": [ { "id": "4549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4549" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "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: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 } ], "biological_process": [ { "name": "cuticle development", "id": "GO:0042335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042335", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "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": "P49869", 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exposure to certain chemicals, autoimmune conditions, and radiation. 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], "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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "TPR domain binding", "id": "GO:0030911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030911", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum chaperone complex", "id": "GO:0034663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034663", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "protein folding chaperone complex", "id": "GO:0101031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101031", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "polytene chromosome interband", "id": "GO:0005705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005705", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" } ], "biological_process": [ { "name": "RISC complex assembly", "id": "GO:0070922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070922", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": 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"UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "proteasome assembly", "id": "GO:0043248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043248", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "pole plasm mRNA localization", "id": "GO:0019094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019094", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "multivesicular body fusion to apical plasma membrane", "id": "GO:0098866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098866", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P02828-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" }, { "database": "PubMed", "id": "17372656", "url": 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1191, "chemical_mass": 124533.0, "gene_names": "ush;CG2762;Dmel\\CG2762;Dmel_CG2762;FOG;USH;Ush;ZFPM2;dFOG;l(2)19;u-sh;ushaped;ush", "protein_name": "Zinc finger protein ush", "disease": [ { "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:0080169", "name": "tricuspid atresia", "description": "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.", "url": "https://disease-ontology.org/term/DOID:0080169", "evidence": [ { "id": "0080169", "database": "AGR", "url": 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"evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": 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{ "name": "lymph gland plasmatocyte differentiation", "id": "GO:0035169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035169", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "lymph gland crystal cell differentiation", "id": "GO:0035170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035170", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "negative regulation of hemocyte differentiation", "id": "GO:0045611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045611", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "larval lymph gland hemopoiesis", "id": "GO:0035167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035167", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "amnioserosa maintenance", "id": "GO:0046665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046665", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "positive 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"P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "fusome organization", "id": "GO:0045478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045478", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "germ-line cyst formation", "id": "GO:0048134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048134", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "maintenance of RNA location", "id": "GO:0051237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051237", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "pole cell formation", "id": "GO:0007279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "oocyte nucleus migration involved in oocyte dorsal/ventral axis specification", "id": "GO:0007312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007312", "evidence": [ { "database": 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"P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "establishment of spindle localization", "id": "GO:0051293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051293", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "maintenance of location", "id": "GO:0051235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051235", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": 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"GO:0051123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051123", "evidence": [ { "database": "UniProtKB", "id": "P29052", "url": "https://www.uniprot.org/uniprotkb/P29052" } ], "pmid": "" }, { "name": "transcriptional start site selection at RNA polymerase II promoter", "id": "GO:0001174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001174", "evidence": [ { "database": "UniProtKB", "id": "P29052", "url": "https://www.uniprot.org/uniprotkb/P29052" } ], "pmid": "" }, { "name": "transcription preinitiation complex assembly", "id": "GO:0070897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070897", "evidence": [ { "database": "UniProtKB", "id": "P29052", "url": "https://www.uniprot.org/uniprotkb/P29052" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P29052-1" }, { "uniprot_canonical_ac": "O97420-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O97420", "url": 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"protein_name": "Guanine nucleotide-binding protein subunit alpha homolog", "disease": [], "biological_process": [ { "name": "regulation of gastrulation", "id": "GO:0010470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010470", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "regulation of myosin II filament organization", "id": "GO:0043519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043519", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "actin-mediated cell contraction", "id": "GO:0070252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070252", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "establishment or maintenance of cytoskeleton polarity involved in gastrulation", "id": "GO:0003380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003380", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "mesectoderm development", "id": "GO:0048383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048383", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "apical constriction involved in gastrulation", "id": "GO:0003384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003384", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "molecular_function": [ { "name": "D5 dopamine receptor binding", "id": "GO:0031752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031752", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P25157-1" }, { "uniprot_canonical_ac": "P42271-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 457, "chemical_mass": 51296.0, "gene_names": "gammaTub37C;CG17566;D.m.GAMMA-37C;Dmel\\CG17566;Dmel_CG17566;GTU88*;PL10;Rb1011;TW1;Tub37CD;Tub37C;Tub3B;TubG2;TubG37C;fs(2)TW1;fs(2)TWI;fsTW1;g-Tubulin;gamma Tub37CD;gamma tubulin;gamma-Tub37C;gamma-Tub;gamma-tub37CD;gamma-tub37C;gamma-tubulin37C;gamma-tubulin;gamma-tub;gammaTUB37C;gammaTUB;gammaTub2;gammaTub37CD;gammaTub37C;gammaTub37c;gammaTub;gamma[mat];gammatub37C;gammatubulin;gammatub", "protein_name": 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"https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "meiotic spindle organization", "id": "GO:0000212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000212", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "oocyte nucleus migration involved in oocyte dorsal/ventral axis specification", "id": "GO:0007312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007312", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "attachment of meiotic spindle microtubules to kinetochore", "id": "GO:0051316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051316", 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"evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": 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"weight": 0.0 }, { "disease_id": "DOID:0111557", "name": "Charcot-Marie-Tooth disease type 2A2B", "description": "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.", "url": "https://disease-ontology.org/term/DOID:0111557", "evidence": [ { "id": "0111557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111557" } ], "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:10652", "name": "Alzheimer's 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} ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes 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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:0060573", "name": "von Willebrand's disease 1", "description": "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0060573", "evidence": [ { "id": "0060573", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060573" } ], "weight": 0.0 }, { "disease_id": "DOID:0060574", "name": "von Willebrand's disease 2", "description": "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.", "url": 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"name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:2219", "evidence": [ { "id": "2219", "database": "AGR", "url": 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replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.", "url": "https://disease-ontology.org/term/DOID:0050557", "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ], "weight": 0.0 }, { "disease_id": "DOID:0050820", "name": "atrioventricular block", "description": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.", "url": "https://disease-ontology.org/term/DOID:0050820", "evidence": [ { "id": "0050820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050820" } ], "weight": 0.0 }, { "disease_id": "DOID:0051037", "name": "autosomal dominant primary microcephaly 26", "description": "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0051037", "evidence": [ { "id": "0051037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051037" } ], "weight": 0.0 }, { "disease_id": "DOID:0051038", "name": "autosomal dominant primary microcephaly 27", "description": "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0051038", "evidence": [ { "id": "0051038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060785", "name": "typical adult-onset autosomal dominant demyelinating leukodystrophy", "description": "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.", "url": "https://disease-ontology.org/term/DOID:0060785", "evidence": [ { "id": "0060785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060785" } ], "weight": 0.0 }, { "disease_id": "DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0070202", "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ], "weight": 0.0 }, { "disease_id": "DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070247", "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ], "weight": 0.0 }, { "disease_id": "DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070248", "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ], "weight": 0.0 }, { "disease_id": "DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070370", "evidence": [ { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ], "weight": 0.0 }, { "disease_id": "DOID:0080299", "name": "partial lipodystrophy", "description": "A lipodystrophy that is characterized by partial loss of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:0080299", "evidence": [ { "id": "0080299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080299" } ], "weight": 0.0 }, { "disease_id": "DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0080334", "evidence": [ { "id": "0080334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ], "weight": 0.0 }, { "disease_id": "DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.", "url": "https://disease-ontology.org/term/DOID:0081128", "evidence": [ { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ], "weight": 0.0 }, { "disease_id": "DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110156", "evidence": [ { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ], "weight": 0.0 }, { "disease_id": "DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0110425", "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ], "weight": 0.0 }, { "disease_id": "DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110640", "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ], "weight": 0.0 }, { "disease_id": "DOID:0111450", "name": "progressive myoclonus epilepsy 9", "description": "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0111450", "evidence": [ { "id": "0111450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111450" } ], "weight": 0.0 }, { "disease_id": "DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111584", "evidence": [ { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ], "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:11712", "name": "lipoatrophic diabetes mellitus", "description": "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.", "url": "https://disease-ontology.org/term/DOID:11712", "evidence": [ { "id": "11712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11712" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "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: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:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:5688", "name": "Werner syndrome", "description": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.", "url": "https://disease-ontology.org/term/DOID:5688", "evidence": [ { "id": "5688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5688" } ], "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": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "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": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "mitotic nuclear membrane reassembly", "id": "GO:0007084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007084", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear membrane organization", "id": "GO:0071763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071763", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "lamin filament", "id": "GO:0005638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005638", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": 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H2av;5499;CG5499;Dmel\\CG5499;H2A.F/Z;H2A.V;H2A.X;H2A.Z;H2AV_DROM;H2AV;H2AX;H2AZ;H2AvD;H2Av;H2A;H2a.V;H2avD;H2av;HIS2AVD;HIS2AV;HIS;His2AV;His2AvD;His2Av;His2A;His2aV;His2av;His2;HisH2Av;Hist2av;Hist;His;P-H2Av;dHis2Av;gamma-H2AV;gamma-H2AvD;gamma-H2Av;gamma-HIS2AV;gamma-His2Av;gammaH2AV;gammaH2Av;gammaH2Ax;gammaH2ax;h2AvD;his2Av;his2av;his;l(3)05146;l(3)810;l(3)97Dd;l(3)L1602", "protein_name": "Histone H2A.v", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P08985", "url": "https://www.uniprot.org/uniprotkb/P08985" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P08985", "url": "https://www.uniprot.org/uniprotkb/P08985" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", 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Does not affect localization to specific chromatin regions, including hsp70 promoter, but prevents transcriptional activation upon heat-shock. Abrogates response to genotoxic stress. Does not stimulate Parp1 activity.", "evidence": [ { "database": "UniProtKB", "id": "P08985", "url": "https://www.uniprot.org/uniprotkb/P08985" }, { "database": "PubMed", "id": "21444826", "url": "https://glygen.org/publication/PubMed/21444826" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Fails to fully rescue null phenotype. Does not affect localization to specific chromatin regions, including hsp70 promoter or the ability to activate transcription upon heat-shock. Abrogates response to genotoxic stress. 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More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "RISC complex assembly", "id": "GO:0070922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070922", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "late endosomal microautophagy", "id": "GO:0061738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061738", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cellular response to topologically incorrect protein", "id": "GO:0035967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035967", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P11147-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asn35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "P11147", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11147#ptm_processing" }, { "id": "17893096", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17893096" } ] } ] }, { "uniprot_canonical_ac": "P11147-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Thr646", "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": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "P11147-1" }, { "uniprot_canonical_ac": "P11584-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 846, "chemical_mass": 92656.0, "gene_names": "mys;BetaPS-Int;BetaPS;CG1560;CT40473;Dmel\\CG1560;Dmel_CG1560;EM28;Integrin beta;ItgbPS;MAb6G11;Mys;PS integrin;PS[[beta]];PSbeta;PS;bPS;b[[PS]];beta integrin;beta-Integrin;beta-Int;beta-PS-integrin;beta-PS;beta-integrin;beta-int;beta1;betaInt;betaPS Int;betaPS integrin;betaPS-Integrin;betaPS-integrin;betaPS1;betaPS;beta[[PS]]-integrin;beta[[PS]];beta[[P]]S;beta[[mys]];betamys;integrin beta[[PS]];l(1)7Db;l(1)7Dn;l(1)93p;l(1)968;l(1)DA551;l(1)EM28;l(1)G0233;l(1)G0281;l(1)mys;mys;nj42;olfC", "protein_name": "Integrin beta-PS", "disease": [ { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0060691", "name": "platelet-type bleeding disorder 16", "description": "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:0060691", "evidence": [ { "id": "0060691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060691" } ], "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:0110064", "name": "amelogenesis imperfecta type 1H", "description": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0110064", "evidence": [ { "id": "0110064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110064" } ], "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:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:2219", "evidence": [ { "id": "2219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2219" } ], "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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6612", "name": "leukocyte adhesion deficiency", "description": "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.", "url": "https://disease-ontology.org/term/DOID:6612", "evidence": [ { "id": "6612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6612" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "biological_process": [ { "name": "central nervous system morphogenesis", "id": "GO:0021551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021551", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "larval heart development", "id": "GO:0007508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007508", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "germ-band extension", "id": "GO:0007377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007377", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "flight behavior", "id": "GO:0007629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007629", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "dorsal trunk growth, open tracheal system", "id": "GO:0035001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035001", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": 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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: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:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "weight": 0.0 }, { "disease_id": "DOID:14766", "name": "renal agenesis", "description": "A renal disease that is characterized by the failure of one or both kidneys to develop.", "url": "https://disease-ontology.org/term/DOID:14766", "evidence": [ { "id": "14766", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14766" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:2219", "evidence": [ { "id": "2219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2219" } ], "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: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: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: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: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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "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. 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molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": 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"id": "P12080", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12080" }, { "id": "33925313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33925313" }, { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" } ] } ] } ], "record_id": "P12080-1" }, { "uniprot_canonical_ac": "P12646-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 524, "chemical_mass": 60415.0, "gene_names": "G6pd;CG12529;Dmel\\CG12529;G-6-PD;G-6-pdh;G-6PD;G-6pd;G6-PD;G6-pd;G6PDH;G6PD;G6pdh;G6pd;Zw;g6pd;zw", "protein_name": "Glucose-6-phosphate 1-dehydrogenase", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A 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that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13628", "name": "favism", "description": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.", "url": "https://disease-ontology.org/term/DOID:13628", "evidence": [ { "id": "13628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13628" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2383", "name": "neonatal jaundice", "description": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.", "url": "https://disease-ontology.org/term/DOID:2383", "evidence": [ { "id": "2383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2383" } ], "weight": 0.0 }, { "disease_id": "DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "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:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of 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"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: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 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"P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P13095", "url": "https://www.uniprot.org/uniprotkb/P13095" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 152, "chemical_mass": 17250.0, "gene_names": "E(spl)m4-BFM;CG6099;DmelCG6099;Dmel\\CG6099;E(spl) m4;E(spl)m4-BFM;E(spl)m4;HLHm4;m4", "protein_name": "Enhancer of split m4 protein", "disease": [], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "P13095", "url": "https://www.uniprot.org/uniprotkb/P13095" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P13095", "url": "https://www.uniprot.org/uniprotkb/P13095" } ], "pmid": "" }, { "name": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P13095-1" }, { "uniprot_canonical_ac": "P13238-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 168, "chemical_mass": 16771.0, "gene_names": "Vm26Ab;CG9046;DIM 29;Dm sV23;Dmel\\CG9046;Dmel_CG9046;Sv23;TU-4;VM26A.2;VM26AB;Vm26Ab;Vm26A;fs(2)QJ42;sV23;sV26;sv23", "protein_name": "Vitelline membrane protein Vm26Ab", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" }, { "name": "vitelline envelope", "id": "GO:0060388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060388", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" } ], "biological_process": [ { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" }, { "name": "egg activation", "id": "GO:0007343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007343", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" }, { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" }, { "name": "vitelline membrane formation involved in chorion-containing eggshell 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Slight reduction in egg turgidity; when associated with S-140.", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" }, { "database": "PubMed", "id": "20832396", "url": "https://glygen.org/publication/PubMed/20832396" } ] } ] }, { "uniprot_canonical_ac": "P13238-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Cys131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of egg turgidity. Females are sterile.", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" }, { "database": "PubMed", "id": "20832396", "url": "https://glygen.org/publication/PubMed/20832396" } ] } ] }, { "uniprot_canonical_ac": "P13238-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Cys140", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No appreciable effect on egg turgidity. Slight reduction in egg turgidity; when associated with S-123.", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" }, { "database": "PubMed", "id": "20832396", "url": "https://glygen.org/publication/PubMed/20832396" } ] } ] } ], "record_id": "P13238-1" }, { "uniprot_canonical_ac": "P13468-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 463, "chemical_mass": 51267.0, "gene_names": "fs(1)K10;CG3218;Dmel\\CG3218;EG:30B8.5;K-10;K10;f(s)K10;fs(1)K10;fs(1)M9;fs(1)k10;k10", "protein_name": "DNA-binding protein K10", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" }, { "name": "pole plasm mRNA localization", "id": "GO:0019094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019094", "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" }, { "name": "follicle cell of egg chamber development", "id": "GO:0030707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P13468-1" }, { "uniprot_canonical_ac": "P14318-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20190.0, "gene_names": "Mp20;CG4696;DMMP20;Dmel\\CG4696;Dmmp20;MP20;Mp20;Tpn;mp20", "protein_name": "Muscle-specific protein 20", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" }, { "name": "regulation of myoblast fusion", "id": "GO:1901739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901739", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P14318-1" }, { "uniprot_canonical_ac": "P14773-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P14773", "url": "https://www.uniprot.org/uniprotkb/P14773" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 920, "chemical_mass": 98317.0, "gene_names": "Hmgcr;BcDNA:LD15354;CG10367;Clb;DmHMG-CoAr;Dmel\\CG10367;HMGCR_Dm;HMGCR;HMGCoARr;HMGCoAR;HMGCoAr;HMGR;HmG-CoAR;Hmgcr;Hmg;bro1;bs32f05.y1;clb;hmgcr;hmgc;hmgrc;l(3)01152;l(3)04684", "protein_name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase", "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:0061130", "name": "autosomal recessive limb-girdle muscular dystrophy type 28", "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13.", "url": "https://disease-ontology.org/term/DOID:0061130", "evidence": [ { "id": "0061130", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061130" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "P20432", "url": "https://www.uniprot.org/uniprotkb/P20432" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "P20432", "url": "https://www.uniprot.org/uniprotkb/P20432" } ], "pmid": "" }, { "name": "DDT-dehydrochlorinase activity", "id": "GO:0018833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018833", "evidence": [ { "database": "UniProtKB", "id": "P20432", "url": "https://www.uniprot.org/uniprotkb/P20432" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P20432", "url": "https://www.uniprot.org/uniprotkb/P20432" 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Resistant to picrotoxinin (PTX) and cyclodiene dieldrin insecticides. Retains partial sensitivity to TBPS and lindane. Decreases sleep latency, increases total sleep time and shows resistance to carbamazepine sleep-induced effects on sleep both by itself or when associated with I-360. Restores defective sleep in Nlg4 and Lztr1 mutants. 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"name": "spondylometaphyseal dysplasia with corneal dystrophy", "description": "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.", "url": "https://disease-ontology.org/term/DOID:0112303", "evidence": [ { "id": "0112303", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112303" } ], "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:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "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" } ], 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"" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P25722", "url": "https://www.uniprot.org/uniprotkb/P25722" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan biosynthetic process", "id": "GO:0015012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015012", "evidence": [ { "database": "UniProtKB", "id": "P25722", "url": "https://www.uniprot.org/uniprotkb/P25722" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P25722", "url": "https://www.uniprot.org/uniprotkb/P25722" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparan sulfate 2-sulfotransferase activity", "id": "GO:0004394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004394", "evidence": [ { "database": "UniProtKB", "id": "P25722", 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"proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P25723", "url": "https://www.uniprot.org/uniprotkb/P25723" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P25723", "url": "https://www.uniprot.org/uniprotkb/P25723" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P25723", "url": "https://www.uniprot.org/uniprotkb/P25723" } ], "pmid": "" }, { "name": "positive regulation of activin receptor signaling pathway", "id": "GO:0032927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032927", "evidence": [ { "database": "UniProtKB", "id": "P25723", "url": "https://www.uniprot.org/uniprotkb/P25723" } ], "pmid": "" }, { "name": 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"record_id": "P29681-1" }, { "uniprot_canonical_ac": "P29843-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P29843", "url": "https://www.uniprot.org/uniprotkb/P29843" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 641, "chemical_mass": 70686.0, "gene_names": "Hsc70-1;143191_at;BcDNA:RH49358;CG8937;DmHsp70;Dmel\\CG8937;Dmel_CG8937;HSC-70;HSC1;HSC70-1;HSC70;HSP70cB1;HSP7A_DROME;Hsc1;Hsc70-1;Hsc70.1;Hsc70;Hsp-c1;Hsp70;dhsc70-1;dhsc70;hsc70", "protein_name": "Heat shock 70 kDa protein cognate 1", "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": 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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: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: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 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { 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"url": "https://disease-ontology.org/term/DOID:0060603", "evidence": [ { "id": "0060603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060603" } ], "weight": 0.0 }, { "disease_id": "DOID:0061096", "name": "immunodeficiency 133", "description": "A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0061096", "evidence": [ { "id": "0061096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061096" } ], "weight": 0.0 }, { "disease_id": "DOID:0111578", "name": "Gillespie syndrome", "description": "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive 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"name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A 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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: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: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:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:11759", "name": "hypochromic anemia", "description": "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. 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"url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "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: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATP-binding cassette (ABC) transporter complex", "id": "GO:0043190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "pleated septate junction", "id": "GO:0005919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005919", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "establishment of glial blood-brain barrier", "id": "GO:0060857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060857", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "renal tubular secretion", "id": "GO:0097254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097254", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00748-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00748#ptm_processing" }, { "id": "17893096", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17893096" } ] } ] } ], "record_id": "Q00748-1" }, { "uniprot_canonical_ac": "Q01637-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q01637", "url": "https://www.uniprot.org/uniprotkb/Q01637" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 53419.0, "gene_names": "r-l;CG3593;Dmel\\CG3593;OMPDC;OPRT;UMPS;r-l;ral", "protein_name": "Uridine 5'-monophosphate synthase", "disease": [ { "disease_id": "DOID:0050833", "name": "orotic aciduria", "description": "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.", "url": "https://disease-ontology.org/term/DOID:0050833", "evidence": [ { "id": "0050833", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050833" } ], "weight": 0.0 }, { "disease_id": "DOID:653", "name": "purine-pyrimidine metabolic disorder", "description": "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.", "url": 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"A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "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": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "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": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "NELF complex", "id": "GO:0032021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032021", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "polytene chromosome interband", "id": "GO:0005705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005705", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q24134-1" }, { "uniprot_canonical_ac": "Q24143-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 723, "chemical_mass": 81029.0, "gene_names": "Hr96;CG11783;DHR96;Dhr96;Dmel\\CG11783;HR96;Hr96;NR1J1;dHR96", "protein_name": "Nuclear hormone receptor HR96", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "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:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080883", "name": "vitamin D-dependent rickets", "description": "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.", "url": "https://disease-ontology.org/term/DOID:0080883", "evidence": [ { "id": "0080883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080883" } ], "weight": 0.0 }, { "disease_id": "DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.", "url": "https://disease-ontology.org/term/DOID:0080884", "evidence": [ { "id": "0080884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080884" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110276" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "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: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: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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "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: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:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "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": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "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": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "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": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "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": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q24143-1" }, { "uniprot_canonical_ac": "Q24169-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 460, "chemical_mass": 52115.0, "gene_names": "Orc5;BG:DS00941.8;CG7833;D-orc5;DmORC5;DmOrc5;Dmel\\CG7833;ORC5;ORC;Orc5;br39;dORC5;l(2)34Df;l(2)br39;orc5", "protein_name": "Origin recognition complex subunit 5", "disease": [], "molecular_function": [ { "name": "DNA replication origin binding", "id": "GO:0003688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003688", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "nuclear origin of replication recognition complex", "id": "GO:0005664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005664", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "DNA replication initiation", "id": "GO:0006270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006270", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "DNA-templated DNA replication", "id": "GO:0006261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006261", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q24169-1" }, { "uniprot_canonical_ac": "Q24314-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1002, "chemical_mass": 115334.0, "gene_names": "dor;CG3093;DOR;Deep-orange;Dmel\\CG3093;Dof;Dor;EG:171E4.1;FI09617;Vps18/dor;Vps18;dor1;dor;l(1)2Be;l(1)2Bw;l(1)76;l(1)7;vps18", "protein_name": "Vacuolar protein sorting-associated protein 18 homolog", "disease": [ { "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 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "eye pigment granule organization", "id": "GO:0008057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008057", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "meiotic chromosome separation", "id": "GO:0051307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051307", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of hippo signaling", "id": "GO:0035330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035330", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "axis specification", "id": "GO:0009798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009798", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "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": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of gliogenesis", "id": "GO:0014013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014013", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "pole plasm mRNA localization", "id": "GO:0019094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019094", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of compound eye retinal cell programmed cell death", "id": "GO:0046669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046669", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "R8 cell development", "id": "GO:0045463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045463", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "RNA localization", "id": "GO:0006403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006403", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "pole plasm assembly", "id": "GO:0007315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007315", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye photoreceptor development", "id": "GO:0042051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042051", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of apical plasma membrane", "id": "GO:0098592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098592", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "Nebenkern", "id": "GO:0016006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016006", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "Kibra-Ex-Mer complex", "id": "GO:0036375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036375", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apicomedial cortex", "id": "GO:0106037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106037", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "subapical part of cell", "id": "GO:0120219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120219", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24564-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Thr616", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q24564", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24564" }, { "database": "PubMed", "id": "17060498", "url": "https://glygen.org/publication/PubMed/17060498" } ] } ] } ], "record_id": "Q24564-1" }, { "uniprot_canonical_ac": "Q24570-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": "https://www.uniprot.org/uniprotkb/Q24570" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 138, "chemical_mass": 15486.0, "gene_names": "grim;BcDNA:RE28551;CG4345;Dmel\\CG4345;GRIM;Grim;grim;gri;grm", "protein_name": "Cell death protein Grim", "disease": [ { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": "https://www.uniprot.org/uniprotkb/Q24570" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": 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"Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "regulation of double-strand break repair via homologous recombination", "id": "GO:0010569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010569", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070192", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "mitotic recombination-dependent replication fork processing", "id": "GO:1990426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990426", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "double-strand break repair via synthesis-dependent strand annealing", "id": "GO:0045003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045003", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "polarity specification of dorsal/ventral axis", "id": "GO:0009951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009951", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "oocyte fate 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"chemical_mass": 175507.0, "gene_names": "osp;BG:DS01486.5;BG:DS01486.7;BG:DS07721.2;CG3479;Dmel\\CG3479;alw;anon-WO02059370.75;l(2)rJ571;osp;v(2)rJ571", "protein_name": "Protein outspread", "disease": [ { "disease_id": "DOID:0110486", "name": "autosomal recessive nonsyndromic deafness 28", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0110486", "evidence": [ { "id": "0110486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110486" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q27421", "url": "https://www.uniprot.org/uniprotkb/Q27421" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q27421", "url": "https://www.uniprot.org/uniprotkb/Q27421" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q27421-4", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "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": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q27421-4", "start_pos": "418", "end_pos": "418", "site_lbl": "Thr418", "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": 418, "start_aa": "Thr", "end_pos": 418, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr418", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q27421-4", "start_pos": "636", "end_pos": "636", "site_lbl": "Thr636", "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": 636, "start_aa": "Thr", "end_pos": 636, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr636", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q27421-4" }, { "uniprot_canonical_ac": "Q27571-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1349, "chemical_mass": 151715.0, "gene_names": "Nos;CG6713;DNOS1;DNOS;Dmel\\CG6713;NOS1;NOS2;NOS;Nos;dNOS4;dNOS;dNos;drNOSoxy;dsNOS;iNOS;iNos;nNOS;nos", "protein_name": "Nitric oxide synthase", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "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: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": 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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:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:10112", "name": "sleeping sickness", "description": "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.", "url": "https://disease-ontology.org/term/DOID:10112", "evidence": [ { "id": "10112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10112" } ], "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:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "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:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "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: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:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "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: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "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:12010", "name": "anterior ischemic optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12010", "evidence": [ { "id": "12010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12010" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:12577", "name": "urethral obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:12577", "evidence": [ { "id": "12577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12577" } ], "weight": 0.0 }, { "disease_id": "DOID:12638", "name": "hypertrophic pyloric stenosis", "description": "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.", "url": "https://disease-ontology.org/term/DOID:12638", "evidence": [ { "id": "12638", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12638" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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: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: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:12935", "name": "alcoholic cardiomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12935", "evidence": [ { "id": "12935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ], "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:13042", "name": "persistent fetal circulation syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13042", "evidence": [ { "id": "13042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13042" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "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: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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID: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:654", "name": "overnutrition", "description": "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.", "url": "https://disease-ontology.org/term/DOID:654", "evidence": [ { "id": "654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:654" } ], "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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID: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:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 }, { "disease_id": "DOID:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "weight": 0.0 }, { "disease_id": "DOID:9220", "name": "central sleep apnea", "description": "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.", "url": "https://disease-ontology.org/term/DOID:9220", "evidence": [ { "id": "9220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9220" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "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": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "L-arginine catabolic process", "id": "GO:0006527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006527", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to Gram-negative bacterium", "id": "GO:0140460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140460", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q27571-1" }, { "uniprot_canonical_ac": "Q8IMX7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 652, "chemical_mass": 73776.0, "gene_names": "Miro;B682;CG5410;DMiro;DmMiro;Dmel\\CG5410;Dmel_CG5410;Miro;Q8IMX7-1;Q8IMX7-2;dMiro;dmiro;miro", "protein_name": "Mitochondrial Rho GTPase", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "mitochondrial outer membrane permeabilization", "id": "GO:0097345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097345", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "anterograde axonal transport of mitochondrion", "id": "GO:0098957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098957", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IMX7-1" }, { "uniprot_canonical_ac": "Q9VNM1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNM1", "url": "https://www.uniprot.org/uniprotkb/Q9VNM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 485, "chemical_mass": 53537.0, "gene_names": "NPFR;CG1147;DmNPFR1;Dmel\\CG1147;Dmel_CG1147;Drm-NPFR;NPF R;NPF receptor;NPF-R1;NPF-R;NPFR-1;NPFR1;NPFR;NPFr;RE18294p;anon-WO0131005.3;anon-WO0131005.5;dNPFR1;npfr1;npfr", "protein_name": "Neuropeptide F receptor", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0070309", "name": "absence epilepsy", "description": "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.", "url": "https://disease-ontology.org/term/DOID:0070309", "evidence": [ { "id": "0070309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070309" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid 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"https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "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": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "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": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion", "id": "GO:0007064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007064", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "maintenance of mitotic sister chromatid cohesion", "id": "GO:0034088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034088", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "establishment of protein localization to chromatin", "id": "GO:0071169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071169", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "replication-born double-strand break repair via sister chromatid exchange", "id": "GO:1990414", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "1986", "end_pos": "1986", "site_lbl": "Ser1986", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7PLI2" } ] } ] }, { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "1991", "end_pos": "1991", "site_lbl": "Ser1991", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7PLI2" } ] } ] }, { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "2066", "end_pos": "2066", "site_lbl": "Ser2066", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7PLI2" } ] } ] }, { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "2067", "end_pos": "2067", "site_lbl": "Thr2067", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7PLI2" } ] } ] } ], "record_id": "Q7PLI2-1" }, { "uniprot_canonical_ac": "Q9VN12-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 633, "chemical_mass": 69570.0, "gene_names": "Dmel\\CG1090;CG1090;Dmel\\CG1090;Dmel_CG1090", "protein_name": "Probable sodium/potassium/calcium exchanger CG1090", "disease": [ { "disease_id": "DOID:0050633", "name": "ocular albinism 1", "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.", "url": "https://disease-ontology.org/term/DOID:0050633", "evidence": [ { "id": "0050633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050633" } ], "weight": 0.0 }, { "disease_id": "DOID:0080614", "name": "oculocutaneous albinism type VI", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0080614", "evidence": [ { "id": "0080614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080614" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "calcium, potassium:sodium antiporter activity", "id": "GO:0008273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008273", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VN12-1" }, { "uniprot_canonical_ac": "Q9VHB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 831, "chemical_mass": 95730.0, "gene_names": "Dmel\\CG16789;CG16789;Dmel\\CG16789;Dmel_CG16789", "protein_name": "ATPase AAA-type core domain-containing protein", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHB4-1" }, { "uniprot_canonical_ac": "Q9VGE8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 31678.0, "gene_names": "Tk;CG14734;DTK-1;DTK-2;DTK-3;DTK-4;DTK-5;DTK-6;DTK1;DTK;DTk;DmTK6;Dmel\\CG14734;Dmel_CG14734;Drm-TK-1;Drm-TK-2;Drm-TK-3;Drm-TK-4;Drm-TK-5;Drm-TK-6;Drm-TK;Dtk;TAP-5;TK-1;TK;Tachykinin 1;Tachykinin 2;Tachykinin 4;Tachykinin 5;Tk;Tyk;dTK;dtk", "protein_name": "Tachykinins", "disease": [], "biological_process": [ { "name": "inter-male aggressive behavior", "id": "GO:0002121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002121", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "positive regulation of hindgut contraction", "id": "GO:0060450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060450", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "tachykinin receptor signaling pathway", "id": "GO:0007217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007217", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "positive regulation of sensory perception of pain", "id": "GO:1904058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904058", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGE8-1" }, { "uniprot_canonical_ac": "Q6AWG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6AWG9", "url": "https://www.uniprot.org/uniprotkb/Q6AWG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1238, "chemical_mass": 133869.0, "gene_names": "Dmel\\CG5098;CG5098;Dmel\\CG5098;Dmel_CG5098", "protein_name": "Uncharacterized protein CG5098", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080354", "name": "Phelan-McDermid syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. 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"evidence": [ { "database": "UniProtKB", "id": "Q6AWG9", "url": "https://www.uniprot.org/uniprotkb/Q6AWG9" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q6AWG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6AWG9" } ] } ] }, { "uniprot_canonical_ac": "Q6AWG9-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Ser793", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6AWG9", "url": "https://www.uniprot.org/uniprotkb/Q6AWG9" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q6AWG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6AWG9" } ] } ] }, { "uniprot_canonical_ac": "Q6AWG9-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Ser799", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6AWG9", "url": "https://www.uniprot.org/uniprotkb/Q6AWG9" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q6AWG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6AWG9" } ] } ] } ], "record_id": "Q6AWG9-1" }, { "uniprot_canonical_ac": "Q9VFI9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFI9", "url": "https://www.uniprot.org/uniprotkb/Q9VFI9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1118, "chemical_mass": 124325.0, "gene_names": "Pde6;6;CG8279;DmPDE5/6;DmPDE6;Dmel\\CG8279;Dmel_CG8279;PDE5/6;PDE6;Pde6", "protein_name": "cGMP-specific 3',5'-cyclic phosphodiesterase", "disease": [ { "disease_id": "DOID:0050572", "name": "cone-rod dystrophy", "description": "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.", "url": "https://disease-ontology.org/term/DOID:0050572", "evidence": [ { "id": "0050572", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050572" } ], "weight": 0.0 }, { "disease_id": "DOID:0110375", "name": "retinitis pigmentosa 40", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0110375", "evidence": [ { "id": "0110375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110375" } ], "weight": 0.0 }, { "disease_id": "DOID:0110379", "name": "retinitis pigmentosa 43", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.", "url": "https://disease-ontology.org/term/DOID:0110379", "evidence": [ { "id": "0110379", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110379" } ], "weight": 0.0 }, { "disease_id": "DOID:0110863", "name": "congenital stationary night blindness autosomal dominant 2", "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0110863", "evidence": [ { "id": "0110863", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110863" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": 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melanogaster [7227]" } ], "length": 422, "chemical_mass": 46000.0, "gene_names": "HtrA2;CG8464;DmHtrA2;Dmel\\CG8464;Dmel_CG8464;HTRA2;HtrA2/Omi;HtrA2;Omi/HtrA2;Omi;dOmi;domi;htrA2/omi;htrA2;omi", "protein_name": "Serine protease HTRA2, mitochondrial", "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:0060863", "name": "patterned macular dystrophy", "description": "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular 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"https://disease-ontology.org/term/DOID:0110019", "evidence": [ { "id": "0110019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110019" } ], "weight": 0.0 }, { "disease_id": "DOID:0111036", "name": "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2", "description": "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0111036", "evidence": [ { "id": "0111036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111036" } ], "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: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:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "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: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:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "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: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: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: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: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": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" } ], 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"start_pos": 89, "start_aa": "Asn", "end_pos": 89, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn89", "evidence": [ { "id": "Q9VCA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9VCA2-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Asn97", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "Q9VCA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" } ] } ] } ], "record_id": "Q9VCA2-1" 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"id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VAS7-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAS7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAS7" } ] } ] }, { "uniprot_canonical_ac": "Q9VAS7-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" }, { "database": "PubMed", 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 35173.0, "gene_names": "dgrn;CG10981;Dgrn;Dmel\\CG10981;Dmel_CG10981;STUbL;dgrn", "protein_name": "", "disease": [ { "disease_id": "DOID:1932", "name": "Angelman syndrome", "description": "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.", "url": "https://disease-ontology.org/term/DOID:1932", "evidence": [ { "id": "1932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1932" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sex determination", "id": "GO:0007530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "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": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010586", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": 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"id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton organization", "id": "GO:0016325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016325", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte fate commitment", "id": "GO:0048600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048600", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte nucleus localization involved in oocyte dorsal/ventral axis specification", "id": "GO:0051663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051663", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated heterochromatin formation", "id": "GO:0141006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141006", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNS0-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Glu131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces nuclear aCCumulation in ovary and ovarian somatic cells. Affects transposable element silencing. Causes female sterility.", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" }, { "database": "PubMed", "id": "23159368", "url": "https://glygen.org/publication/PubMed/23159368" } ] } ] }, { "uniprot_canonical_ac": "Q9VNS0-1", "start_pos": "291", "end_pos": "291", "site_lbl": "His291", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces nuclear aCCumulation in ovary and ovarian somatic cells. Affects transposable element silencing. Causes female sterility.", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" }, { "database": "PubMed", "id": "23159368", "url": "https://glygen.org/publication/PubMed/23159368" } ] } ] } ], "record_id": "Q9VNS0-1" }, { "uniprot_canonical_ac": "Q9VN27-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 234, "chemical_mass": 26034.0, "gene_names": "Lipt2;CG9804;Dmel\\CG9804;Dmel_CG9804;Lipt2", "protein_name": "Putative lipoyltransferase 2, mitochondrial", "disease": [ { "disease_id": "DOID:543", "name": "dystonia", "description": "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.", "url": 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"Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipoyl(octanoyl) transferase activity", "id": "GO:0033819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033819", "evidence": [ { "database": "UniProtKB", "id": "Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VN27-1" }, { "uniprot_canonical_ac": "Q9VEJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 852, "chemical_mass": 97552.0, "gene_names": "l(3)07882;CG5824;Dmel\\CG5824;Dmel_CG5824;l(3)07882", "protein_name": "Nucleolar protein 14 homolog", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "Noc4p-Nop14p complex", "id": "GO:0030692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030692", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030490", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEJ2-1" }, { "uniprot_canonical_ac": "Q6NN40-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 276, "chemical_mass": 30602.0, "gene_names": "Ntmt;CG1675;Dmel\\CG1675;Dmel_CG1675;Ntmt;dNTMT", "protein_name": "Alpha N-terminal protein methyltransferase 1", "disease": [], "molecular_function": [ { "name": "N-terminal protein N-methyltransferase activity", "id": "GO:0071885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071885", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6NN40-1" }, { "uniprot_canonical_ac": "Q9U1H9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 672, "chemical_mass": 76249.0, "gene_names": "sbr;CG1664;CG17335;CT4634;DNXF-1;Dm nxf1;DmNXF1;Dmel\\CG1664;Dmel_CG1664;NFX1;NXF1-p15;NXF1;Nxf1;PABPr;SBR;Sbr;dNXF1;dNxf1;dTap;l(1)9Fd;l(1)G1;l(1)ts403;l(1)ts;nfx1;nxf1;sbr;sbt", "protein_name": "Nuclear RNA export factor 1", "disease": [], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": 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"germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "chromosome localization", "id": "GO:0050000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050000", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "spindle pole centrosome", "id": "GO:0031616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031616", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" }, { "name": "spindle envelope", "id": "GO:0070732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070732", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9VT70", "url": "https://www.uniprot.org/uniprotkb/Q9VT70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT70-1" }, { "uniprot_canonical_ac": "Q9VYB7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYB7", "url": "https://www.uniprot.org/uniprotkb/Q9VYB7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 499, "chemical_mass": 58050.0, "gene_names": "Tpst;CG1573;CG15758;CG15759;CG32629/CG32632;CG32629;CG32632;DmTPST;Dmel\\CG32632;Dmel_CG32632;TANGO13;TPST;Tango13;Tpst", "protein_name": "Protein-tyrosine sulfotransferase", "disease": [ { "disease_id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9V7N5", "url": "https://www.uniprot.org/uniprotkb/Q9V7N5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V7N5-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Thr161", "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": 161, "start_aa": "Thr", "end_pos": 161, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr161", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9V7N5-1" }, { "uniprot_canonical_ac": "Q9V4L4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 22807.0, "gene_names": "kappaB-Ras;B7YZS7;BcDNA:RH38596;CG1669;Dmel\\CG1669;Dmel_CG1669;Q9V4L4-1;dkappaB-Ras;kappaB-Ras", "protein_name": "NF-kappa-B inhibitor-interacting Ras-like protein", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "pmid": "" }, { "name": "GTPase activating protein binding", "id": "GO:0032794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032794", "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "pmid": "" }, { "name": "IkappaB kinase complex binding", "id": "GO:0106137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106137", "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "pmid": "" }, { "name": "Ral protein signal transduction", "id": "GO:0032484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032484", "evidence": [ { "database": "UniProtKB", "id": "Q9V4L4", "url": "https://www.uniprot.org/uniprotkb/Q9V4L4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V4L4-1" }, { "uniprot_canonical_ac": "Q9VJJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1128, "chemical_mass": 127109.0, "gene_names": "Trpgamma;CG5996;DmTRPgamma;Dmel\\CG5996;Dmel_CG5996;TRPgamma;Trp-gamma;Trpgamma;dTRPgamma;dTRPg;trp-gamma;trpgamma", "protein_name": "Transient receptor potential-gamma protein", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "mechanosensitive monoatomic ion channel activity", "id": "GO:0008381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008381", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "store-operated calcium channel activity", "id": "GO:0015279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015279", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VJJ7" } ], "pmid": "" }, { "name": "proximal dendrite", "id": "GO:1990635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990635", "evidence": [ { "database": "UniProtKB", "id": "Q9VJJ7", "url": 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJJ7-1" }, { "uniprot_canonical_ac": "Q9VVX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": "https://www.uniprot.org/uniprotkb/Q9VVX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 694, "chemical_mass": 75451.0, "gene_names": "fz2;CG9739;D-Fz2;D-fz2;DFZ2;DFz-2;DFz2C;DFz2;Dfrz2;Dfz2;Dfz[[2]];Dm Fz2;Dmel\\CG9739;Dmel_CG9739;FZ2;Frizzled 2;Fz2R;Fz2;dFz2;dfz(2);dfz2r;dfz2;frz2;fz-2;fz2", "protein_name": "Frizzled-2", "disease": [ { "disease_id": "DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": "https://www.uniprot.org/uniprotkb/Q9VVX3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": "https://www.uniprot.org/uniprotkb/Q9VVX3" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": "https://www.uniprot.org/uniprotkb/Q9VVX3" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": 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"uniprot_canonical_ac": "Q7PLL6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7PLL6", "url": "https://www.uniprot.org/uniprotkb/Q7PLL6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2630, "chemical_mass": 293910.0, "gene_names": "l(3)80Fj;80Fj;CG17514;Dmel\\CG17514;Dmel_CG17514;l(3)80Fj;l(3)Lh1;l1;lethal 1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7PLL6", "url": "https://www.uniprot.org/uniprotkb/Q7PLL6" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q7PLL6", "url": "https://www.uniprot.org/uniprotkb/Q7PLL6" } ], 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} ], "pmid": "" }, { "name": "mRNA export from nucleus in response to heat stress", "id": "GO:0031990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031990", "evidence": [ { "database": "UniProtKB", "id": "Q9VTV1", "url": "https://www.uniprot.org/uniprotkb/Q9VTV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTV1-1" }, { "uniprot_canonical_ac": "Q9VWV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWV9", "url": "https://www.uniprot.org/uniprotkb/Q9VWV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 525, "chemical_mass": 59195.0, "gene_names": "por;15175;CG6205;Dmel\\CG6205;Dmel_CG6205;Porc;Por;dmPorc;l(1)17Ac;poc;porc;por", "protein_name": "Protein-serine O-palmitoleoyltransferase porcupine", "disease": [ { "disease_id": "DOID:2120", "name": "focal dermal hypoplasia", "description": 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"https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "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:8411", "name": "kidney angiomyolipoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8411", "evidence": [ { "id": "8411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8411" } ], "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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in 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"url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of response to drug", "id": "GO:2001023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001023", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "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": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of proteasomal protein catabolic process", "id": "GO:1901799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901799", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "germline cell cycle switching, mitotic to meiotic cell cycle", "id": "GO:0051729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051729", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "germarium-derived cystoblast division", "id": "GO:0048142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048142", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": "GO:0035096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035096", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of ribosome biogenesis", "id": "GO:0090070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090070", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "lamellocyte differentiation", "id": "GO:0035171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035171", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "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": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of multicellular organismal process", "id": "GO:0051240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051240", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": 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response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q7K4Z4", "url": "https://www.uniprot.org/uniprotkb/Q7K4Z4" } ], "pmid": "" }, { "name": "positive regulation of antibacterial peptide production", "id": "GO:0002803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002803", "evidence": [ { "database": "UniProtKB", "id": "Q7K4Z4", "url": "https://www.uniprot.org/uniprotkb/Q7K4Z4" } ], "pmid": "" }, { "name": "positive regulation of antibacterial peptide biosynthetic process", "id": "GO:0006963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006963", "evidence": [ { "database": "UniProtKB", "id": "Q7K4Z4", "url": "https://www.uniprot.org/uniprotkb/Q7K4Z4" } ], "pmid": "" }, { "name": "positive regulation of biosynthetic process of antibacterial peptides active against Gram-negative bacteria", "id": "GO:0006964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006964", "evidence": [ { "database": 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Abolishes caspase-mediated cleavage and ubiquitination. Blocks expression of Dpt in response to E.coli peptidoglycans (PGN).", "evidence": [ { "database": "UniProtKB", "id": "Q7K4Z4", "url": "https://www.uniprot.org/uniprotkb/Q7K4Z4" }, { "database": "PubMed", "id": "20122400", "url": "https://glygen.org/publication/PubMed/20122400" } ] } ] }, { "uniprot_canonical_ac": "Q7K4Z4-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ala31", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "In imd-1; immune response defective. Reduced survival and decreased induction of various antibacterial peptides after bacterial challenge. Abolishes ubiquitination and reduces binding to Diap2 but has no effect on caspase-mediated cleavage. Increased resistance to UV radiation. No effect on survival after infection with the fungus A.fumigatus. No effect on up-regulation of Drs after bacterial challenge.", "evidence": [ { "database": "UniProtKB", "id": "Q7K4Z4", "url": "https://www.uniprot.org/uniprotkb/Q7K4Z4" }, { "database": "PubMed", "id": "20122400", "url": "https://glygen.org/publication/PubMed/20122400" }, { "database": "PubMed", "id": "7568155", "url": "https://glygen.org/publication/PubMed/7568155" }, { "database": "PubMed", "id": "8808632", "url": "https://glygen.org/publication/PubMed/8808632" }, { "database": "PubMed", "id": "11703941", "url": "https://glygen.org/publication/PubMed/11703941" } ] } ] } ], "record_id": "Q7K4Z4-1" }, { "uniprot_canonical_ac": "Q7K738-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7K738", "url": "https://www.uniprot.org/uniprotkb/Q7K738" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 154, "chemical_mass": 17907.0, "gene_names": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "Q7K738", "url": "https://www.uniprot.org/uniprotkb/Q7K738" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7K738", "url": "https://www.uniprot.org/uniprotkb/Q7K738" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7K738-1" }, { "uniprot_canonical_ac": "Q7K7A9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7K7A9", "url": "https://www.uniprot.org/uniprotkb/Q7K7A9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 385, "chemical_mass": 42948.0, "gene_names": "Fen1;CG8648;DmFEN-1;Dmel\\CG8648;EG:EG0003.3;FEN1;Fen1;fen1", "protein_name": "Flap endonuclease 1", 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"Thr171", "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": 171, "start_aa": "Thr", "end_pos": 171, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr171", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q7KSU5-1" }, { "uniprot_canonical_ac": "Q7KT25-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KT25", "url": "https://www.uniprot.org/uniprotkb/Q7KT25" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 205, "chemical_mass": 23781.0, "gene_names": "38B.19;38B.19;CG13970;Dmel\\CG13970;Dmel_CG13970", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KT25-1" }, { "uniprot_canonical_ac": "Q7KTX7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 482, "chemical_mass": 54105.0, "gene_names": "park;AAN12155.1;CG10523;Dmel\\CG10523;Dpark;PARK2;PARKIN;PARK;PK;Parkin;Park;SD01679;dPARKIN;dParkin;dparkin;dpark;dpk;park1;parkin;park;pk;prkn", "protein_name": "E3 ubiquitin-protein ligase parkin", "disease": [ { "disease_id": "DOID:0050340", "name": "opportunistic bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.", "url": "https://disease-ontology.org/term/DOID:0050340", "evidence": [ { "id": "0050340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050340" } ], "weight": 0.0 }, { "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:0060368", "name": "Parkinson's disease 2", "description": "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27.", "url": "https://disease-ontology.org/term/DOID:0060368", "evidence": [ { "id": "0060368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060368" } ], "weight": 0.0 }, { "disease_id": "DOID:0060369", "name": "Parkinson's disease 6", "description": "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:0060369", "evidence": [ { "id": "0060369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060369" } ], "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: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:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of autophagy of mitochondrion", "id": "GO:1903599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903599", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of neuronal action potential", "id": "GO:1904457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904457", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of compound eye pigmentation", "id": "GO:0048078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048078", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of locomotor rhythm", "id": "GO:1904061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904061", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "larval locomotory behavior", "id": "GO:0008345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008345", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "iPTMnet", "id": "Q7KTX7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7KTX7" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Reduced mitochondrial localization in the presence of Pink1. Reduced rescue of mitochondrial defects when expressed in null mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "18957282", "url": "https://glygen.org/publication/PubMed/18957282" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "iPTMnet", "id": "Q7KTX7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7KTX7" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by Pink1 and reduces enzyme activity. Mitochondrial morphology and function is relatively normal however, expression in TH-neurons results in impaired flying ability, impaired dopamine release and an age-dependent loss of DA neurons, spherical clustering of mitochondria in DA neurons and disturbed mitochondrial transport. Able to rescue all mitochondrial and behavioral defects caused by the loss of Pink1. Partially rescues mitochondrial morphology and abnormal wing posture caused by loss of park. No effect on translocation to mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "27906179", "url": "https://glygen.org/publication/PubMed/27906179" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Phosphomimetic mutant with increased enzyme activity. Lethal when ubiquitously expressed. Constitutive phosphorylation results in impaired motor activity and fragmented mitochondria, likely due to reduced levels of the outer mitochondrial membrane proteins Marf and Miro. Expression in TH-neurons results in impaired flying ability, impaired dopamine release and substantial loss of DA neurons in very young adults (5-day old), single large mitochondria in each DA neuronal cell and loss of mitochondrial transport. Able to rescue reduced adult survival caused by loss of Pink1.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Arg296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Loss of self-ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "17456438", "url": "https://glygen.org/publication/PubMed/17456438" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Cys310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Loss of self-ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": 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"https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "32047033", "url": "https://glygen.org/publication/PubMed/32047033" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Lys71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "P", "comment": "Abolishes self-ubiquitination resulting in decreased E3 ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "16002472", "url": "https://glygen.org/publication/PubMed/16002472" }, { "database": "PubMed", "id": "17456438", "url": "https://glygen.org/publication/PubMed/17456438" } ] } ] } ], "record_id": "Q7KTX7-1" }, { "uniprot_canonical_ac": "Q7KU86-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KU86", "url": "https://www.uniprot.org/uniprotkb/Q7KU86" } ], "common_name": "Fruit 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"https://www.uniprot.org/uniprotkb/Q7KU86" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KU86-1" }, { "uniprot_canonical_ac": "Q7KUL4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUL4", "url": "https://www.uniprot.org/uniprotkb/Q7KUL4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 320, "chemical_mass": 34491.0, "gene_names": "ind;CG11551;Dmel\\CG11551;Dmel_CG11551;Gsx;Ind;ind/Gsx;ind", "protein_name": "", "disease": [ { "disease_id": "DOID:0061003", "name": "pancreatic agenesis 1", "description": "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.", "url": "https://disease-ontology.org/term/DOID:0061003", "evidence": [ { "id": "0061003", "database": "AGR", 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"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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "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": "Q7KUL4", "url": "https://www.uniprot.org/uniprotkb/Q7KUL4" } ], "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": "Q7KUL4", "url": "https://www.uniprot.org/uniprotkb/Q7KUL4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q7KUL4", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KUT2", "url": "https://www.uniprot.org/uniprotkb/Q7KUT2" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q7KUT2", "url": "https://www.uniprot.org/uniprotkb/Q7KUT2" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q7KUT2", "url": "https://www.uniprot.org/uniprotkb/Q7KUT2" } ], "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": "Q7KUT2", "url": "https://www.uniprot.org/uniprotkb/Q7KUT2" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", 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"GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q8IN42", "url": "https://www.uniprot.org/uniprotkb/Q8IN42" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q8IN42", "url": "https://www.uniprot.org/uniprotkb/Q8IN42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IN42-1" }, { "uniprot_canonical_ac": "Q8IN44-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IN44", "url": "https://www.uniprot.org/uniprotkb/Q8IN44" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 129, "chemical_mass": 14220.0, "gene_names": "TotA;CG31509;DIM 31;Dmel\\CG31509;Tot A;Tot-A;TotA;Tot;Turt;totA;tot", "protein_name": "Protein 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"ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q8IRL8", "url": "https://www.uniprot.org/uniprotkb/Q8IRL8" } ], "pmid": "" }, { "name": "taste receptor activity", "id": "GO:0008527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008527", "evidence": [ { "database": "UniProtKB", "id": "Q8IRL8", "url": "https://www.uniprot.org/uniprotkb/Q8IRL8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRL8-1" }, { "uniprot_canonical_ac": "Q8IRW8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2431, "chemical_mass": 259828.0, "gene_names": "trr;CG3848;Dmel\\CG3848;EG:63B12.3;KMT2C;TRR;Trr;anon-2Bb;dmll3/4;trr", "protein_name": "Histone-lysine N-methyltransferase trr", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060473", "name": "Kabuki syndrome", "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. 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"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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "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:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"disease_id": "DOID:5426", "name": "primary ovarian insufficiency", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.", "url": "https://disease-ontology.org/term/DOID:5426", "evidence": [ { "id": "5426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5426" } ], "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:903", "name": "gastrointestinal lymphoma", "description": "", "url": "https://disease-ontology.org/term/DOID:903", "evidence": [ { "id": "903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:903" } ], "weight": 0.0 } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "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": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "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": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "positive regulation of ecdysone receptor signaling pathway", "id": "GO:0120142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120142", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": 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"https://www.alliancegenome.org/disease/DOID:8869" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that 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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:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "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: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: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: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: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: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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "epithelium regeneration", "id": "GO:1990399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990399", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "imaginal disc growth factor receptor binding", "id": "GO:0008084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008084", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8MM24-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "Q8MM24", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8MM24#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8MM24-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asn218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 218, "start_aa": "Asn", "end_pos": 218, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn218", "evidence": [ { "id": "Q8MM24", "database": "UniProtKB", "url": 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"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: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: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": 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8T0R7", "url": "https://www.uniprot.org/uniprotkb/Q8T0R7" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q8T0R7", "url": "https://www.uniprot.org/uniprotkb/Q8T0R7" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8T0R7", "url": "https://www.uniprot.org/uniprotkb/Q8T0R7" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q8T0R7", "url": "https://www.uniprot.org/uniprotkb/Q8T0R7" } ], "pmid": "" }, { "name": "imaginal disc 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"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: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: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: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: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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": 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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: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": 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}, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W0", "url": "https://www.uniprot.org/uniprotkb/Q9V3W0" } ], "pmid": "" }, { "name": "2-iminobutanoate deaminase activity", "id": "GO:0120242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120242", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W0", "url": "https://www.uniprot.org/uniprotkb/Q9V3W0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V3W0-1" }, { "uniprot_canonical_ac": "Q9V3W6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3W6", "url": "https://www.uniprot.org/uniprotkb/Q9V3W6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 438, "chemical_mass": 50669.0, "gene_names": "Inx7;CG2977;CG32731;D-inx-7;Dm-inx7;Dmel\\CG2977;FBpp0070994;Inx7;inx-7;inx7;prp7", "protein_name": "Innexin inx7", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W6", "url": "https://www.uniprot.org/uniprotkb/Q9V3W6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W6", "url": "https://www.uniprot.org/uniprotkb/Q9V3W6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W6", "url": "https://www.uniprot.org/uniprotkb/Q9V3W6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V3W6", "url": 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 392, "start_aa": "Thr", "end_pos": 392, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr392", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9V3W6-1" }, { "uniprot_canonical_ac": "Q9V3Z1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3Z1", "url": "https://www.uniprot.org/uniprotkb/Q9V3Z1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 484, "chemical_mass": 54077.0, "gene_names": "trbl;CG5408;Dmel\\CG5408;Trbl;trbl;trb", "protein_name": "Tribbles", "disease": [ { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": 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Embryos display an early pause in the cell cycle similar to wild-type.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3Z1", "url": "https://www.uniprot.org/uniprotkb/Q9V3Z1" }, { "database": "PubMed", "id": "10850494", "url": "https://glygen.org/publication/PubMed/10850494" } ] } ] }, { "uniprot_canonical_ac": "Q9V3Z1-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Glu286", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Partial loss of border cell migration when expressed in border cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3Z1", "url": "https://www.uniprot.org/uniprotkb/Q9V3Z1" }, { "database": "PubMed", "id": "23305818", "url": "https://glygen.org/publication/PubMed/23305818" } ] } ] } ], "record_id": "Q9V3Z1-1" }, { "uniprot_canonical_ac": "Q9V439-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V439", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "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": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "negative regulation of 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"pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "positive regulation of lipophagy", "id": "GO:1904504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904504", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "stem cell proliferation", "id": "GO:0072089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "imaginal disc growth", "id": "GO:0007446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007446", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" } ], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": "https://www.uniprot.org/uniprotkb/Q9VA38" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VA38", "url": 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} ] }, { "uniprot_canonical_ac": "Q9VA38-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Thr444", "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": 444, "start_aa": "Thr", "end_pos": 444, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr444", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VA38-1" }, { "uniprot_canonical_ac": "Q9VAG4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAG4", "url": "https://www.uniprot.org/uniprotkb/Q9VAG4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 447, "chemical_mass": 50412.0, "gene_names": "Vps16B;CG18112;Dmel\\CG18112;Vps16B;Vps16b;dVps16B;fob", "protein_name": "Vacuolar protein sorting-associated protein 16B", "disease": [ { "disease_id": "DOID:0050763", "name": "ARC syndrome", "description": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.", "url": "https://disease-ontology.org/term/DOID:0050763", "evidence": [ { "id": "0050763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050763" } ], "weight": 0.0 }, { "disease_id": "DOID:0111354", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "An arthrogryposis, renal 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"url": "https://www.uniprot.org/uniprotkb/Q9VAG4" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VAG4", "url": "https://www.uniprot.org/uniprotkb/Q9VAG4" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VAG4", "url": "https://www.uniprot.org/uniprotkb/Q9VAG4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VAG4", "url": "https://www.uniprot.org/uniprotkb/Q9VAG4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9VAG4", "url": "https://www.uniprot.org/uniprotkb/Q9VAG4" 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC76", "url": "https://www.uniprot.org/uniprotkb/Q9VC76" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 331, "chemical_mass": 37149.0, "gene_names": "Dmel\\CG13615;CG13615;Dmel\\CG13615;Dmel_CG13615", "protein_name": "F-box only protein 11", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VC76-1" }, { "uniprot_canonical_ac": "Q9VCG4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCG4", "url": "https://www.uniprot.org/uniprotkb/Q9VCG4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 578, "chemical_mass": 65387.0, "gene_names": "Ndc1;CG5857;Dmel\\CG5857;NDC1;Ndc1;ndc1", "protein_name": "Nucleoporin Ndc1", "disease": [], 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[], "sites": [ { "uniprot_canonical_ac": "Q9VCG4-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VCG4", "url": "https://www.uniprot.org/uniprotkb/Q9VCG4" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VCG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VCG4" } ] } ] } ], "record_id": "Q9VCG4-1" }, { "uniprot_canonical_ac": "Q9VCH5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1960, "chemical_mass": 210139.0, "gene_names": "Nup98-96;CG10198;CG10201;Dmel\\CG10198;NUP98-NUP96;NUP98;Nup 96;Nup 98;Nup-98;Nup145;Nup96-98;Nup96;Nup98-96;Nup98-Nup96;Nup98/96;Nup98;Nup;l(3)95BCd;nup145;nup98-96;nup98", "protein_name": "Nuclear pore complex protein Nup98-Nup96", "disease": [ { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", 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"id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "nuclear pore cytoplasmic filaments", "id": "GO:0044614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044614", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "nuclear pore central transport channel", "id": "GO:0044613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044613", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" }, { "name": "polytene chromosome band", "id": "GO:0005704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005704", "evidence": [ { "database": "UniProtKB", "id": "Q9VCH5", "url": "https://www.uniprot.org/uniprotkb/Q9VCH5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VCH5-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Thr12", "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": 12, "start_aa": "Thr", "end_pos": 12, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr12", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": 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"bicoid mRNA localization", "id": "GO:0045450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045450", "evidence": [ { "database": "UniProtKB", "id": "Q9VD72", "url": "https://www.uniprot.org/uniprotkb/Q9VD72" } ], "pmid": "" } ], "cellular_component": [ { "name": "ESCRT II complex", "id": "GO:0000814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000814", "evidence": [ { "database": "UniProtKB", "id": "Q9VD72", "url": "https://www.uniprot.org/uniprotkb/Q9VD72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD72-1" }, { "uniprot_canonical_ac": "Q9VDD9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 320, "chemical_mass": 36226.0, "gene_names": 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"name": "wobble position guanine ribose methylation", "id": "GO:0002129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002129", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" }, { "name": "wobble position cytosine ribose methylation", "id": "GO:0002131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002131", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" }, { "name": "wobble position ribose methylation", "id": "GO:0002130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002130", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "tRNA methyltransferase activity", "id": "GO:0008175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008175", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": 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"database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD9", "url": "https://www.uniprot.org/uniprotkb/Q9VDD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDD9-1" }, { "uniprot_canonical_ac": "Q9VDL1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDL1", "url": "https://www.uniprot.org/uniprotkb/Q9VDL1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 364, "chemical_mass": 42155.0, "gene_names": "Tmlh;CG4335;Dmel\\CG4335;Dmel_CG4335;TMLHE;TMLH;Tmlh", "protein_name": "Trimethyllysine dioxygenase, mitochondrial", "disease": [ { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VDM7", "url": 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signaling-impaired protein", "disease": [], "biological_process": [ { "name": "activation of immune response", "id": "GO:0002253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002253", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": 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"Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "growth cone lamellipodium", "id": "GO:1990761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990761", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "NatB complex", "id": "GO:0031416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031416", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" }, { "name": "acetyltransferase activator activity", "id": "GO:0010698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010698", "evidence": [ { "database": "UniProtKB", "id": "Q9VDQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VDQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDQ7-1" }, { "uniprot_canonical_ac": "Q9VDT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 28137.0, "gene_names": "Mrm2;CG11447;DmMRM2;Dmel\\CG11447;Mrm2", "protein_name": "rRNA methyltransferase 2, mitochondrial", "disease": [ { "disease_id": "DOID:0070448", "name": "mitochondrial DNA depletion syndrome 17", "description": "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome.", "url": "https://disease-ontology.org/term/DOID:0070448", "evidence": [ { "id": "0070448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070448" } ], "weight": 0.0 }, { "disease_id": "DOID:3687", "name": "MELAS syndrome", "description": "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.", "url": "https://disease-ontology.org/term/DOID:3687", "evidence": [ { "id": "3687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3687" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" }, { "name": "mitochondrial large ribosomal subunit assembly", "id": "GO:1902775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902775", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" }, { "name": "RNA methylation", "id": "GO:0001510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001510", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" } ], "molecular_function": [ { "name": "rRNA (uridine-2'-O-)-methyltransferase activity", "id": "GO:0008650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008650", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT6", "url": "https://www.uniprot.org/uniprotkb/Q9VDT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDT6-1" }, { "uniprot_canonical_ac": "Q9VE01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 536, "chemical_mass": 61355.0, "gene_names": "Cyp12a5;12a5;CG11821;CYP12A5;CYP12a5;Cyp12A5;Cyp12a5;Dmel\\CG11821", "protein_name": "Probable cytochrome P450 12a5, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "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:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "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:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "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:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "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: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: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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VE01", "url": "https://www.uniprot.org/uniprotkb/Q9VE01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE01-1" }, { "uniprot_canonical_ac": "Q9VEB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 560, "chemical_mass": 64830.0, "gene_names": "mTerf5;CG7175;D-MTERF5;Dmel\\CG7175;mTerf5", "protein_name": "Transcription termination factor 5, mitochondrial", "disease": [], "biological_process": [ { "name": "termination of mitochondrial transcription", "id": "GO:0006393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006393", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" }, { "name": "transcription regulator inhibitor activity", "id": "GO:0140416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140416", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB4", "url": "https://www.uniprot.org/uniprotkb/Q9VEB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEB4-1" }, { "uniprot_canonical_ac": "Q9VEG3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEG3", "url": "https://www.uniprot.org/uniprotkb/Q9VEG3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 121, "chemical_mass": 13633.0, "gene_names": "Dmel\\CG14321;CG14321;Dmel\\CG14321;Dmel_CG14321", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEG3-1" }, { "uniprot_canonical_ac": "Q9VEG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEG9", "url": "https://www.uniprot.org/uniprotkb/Q9VEG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 28570.0, "gene_names": "nrm;CG7655;Dmel\\CG7655", "protein_name": "Nurim homolog", "disease": [ { "disease_id": 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"name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q9VEG9", "url": "https://www.uniprot.org/uniprotkb/Q9VEG9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEG9-1" }, { "uniprot_canonical_ac": "Q9VEM1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEM1", "url": "https://www.uniprot.org/uniprotkb/Q9VEM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 280, "chemical_mass": 31659.0, "gene_names": "Smug;CG5285_Dm_7300236;CG5285;Dmel\\CG5285;Dmel_CG5285;SMUG1;SMUG;Smug;dmSMUG1;ssUDG", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": 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} ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" } ], "biological_process": [ { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" }, { "name": "heat shock-mediated polytene chromosome puffing", "id": "GO:0035080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035080", "evidence": [ { "database": "UniProtKB", "id": "Q9VG58", "url": "https://www.uniprot.org/uniprotkb/Q9VG58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VG58-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Thr636", "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": 636, "start_aa": "Thr", "end_pos": 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thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": 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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: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:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "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: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:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:178", "name": "vascular disease", "description": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.", "url": "https://disease-ontology.org/term/DOID:178", "evidence": [ { "id": "178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:178" } ], "weight": 0.0 }, { "disease_id": "DOID:2006", "name": "preretinal fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:2006", "evidence": [ { "id": "2006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2006" } ], "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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3594", "name": "choriocarcinoma", "description": "A placenta cancer that has_material_basis_in trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3594", "evidence": [ { "id": "3594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3594" } ], "weight": 0.0 }, { "disease_id": "DOID:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of membrane protein ectodomain proteolysis", "id": "GO:0051045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051045", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "delamination", "id": "GO:0060232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060232", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "tracheal pit formation in open tracheal system", "id": "GO:0035202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035202", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "phototaxis", "id": "GO:0042331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042331", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "imaginal disc-derived wing expansion", "id": "GO:0048526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048526", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" }, { "name": "metalloendopeptidase inhibitor activity", "id": "GO:0008191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008191", "evidence": [ { "database": "UniProtKB", "id": "Q9VH14", "url": "https://www.uniprot.org/uniprotkb/Q9VH14" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH14-1" }, { "uniprot_canonical_ac": "Q9VH19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 683, "chemical_mass": 76978.0, "gene_names": "Invadolysin;CG3953;DmIX-14;Dmel\\CG3953;IX-14;Invadolysin;invadolysin;inv;l(3)IX-14;l(3)SG34", "protein_name": "Leishmanolysin-like peptidase", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "positive regulation of mitotic metaphase/anaphase transition", "id": "GO:0045842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045842", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "mitotic centrosome separation", "id": "GO:0007100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007100", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q9VH19", "url": "https://www.uniprot.org/uniprotkb/Q9VH19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH19-1" }, { "uniprot_canonical_ac": "Q9VH38-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 452, "chemical_mass": 52175.0, "gene_names": "mtTFB2;CG3910;Dmel\\CG3910;TFB2M;TFB2;d-TF2BM;d-mtTFB2;mtTFB2", "protein_name": "Dimethyladenosine transferase 2, mitochondrial", "disease": [], "biological_process": [ { "name": "rRNA methylation", "id": "GO:0031167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031167", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" }, { "name": "transcription initiation at mitochondrial promoter", "id": "GO:0006391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006391", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" }, { "name": "mitochondrial transcription", "id": "GO:0006390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006390", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" }, { "name": "rRNA (adenine-N6,N6-)-dimethyltransferase activity", "id": "GO:0000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000179", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" }, { "name": "mitochondrial transcription factor activity", "id": "GO:0034246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034246", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VH38", "url": "https://www.uniprot.org/uniprotkb/Q9VH38" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH38-1" }, { "uniprot_canonical_ac": "Q9VH39-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH39", "url": "https://www.uniprot.org/uniprotkb/Q9VH39" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 203, "chemical_mass": 23705.0, "gene_names": "NdufAF4;BcDNA:AT14909;CG11722;Dmel\\CG11722;dNDUFAF4", "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4", "disease": [ { "disease_id": "DOID:0112077", "name": "nuclear type mitochondrial complex I deficiency 15", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.", "url": 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"DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "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": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VH70", "url": "https://www.uniprot.org/uniprotkb/Q9VH70" } ], "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": "Q9VH70", "url": 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"https://www.uniprot.org/uniprotkb/Q9VH70" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH70-1" }, { "uniprot_canonical_ac": "Q9VH95-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH95", "url": "https://www.uniprot.org/uniprotkb/Q9VH95" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20753.0, "gene_names": "cPges;CG16817;Dmel\\CG16817;YC17;cg16817;p23", "protein_name": "Cytosolic Prostaglandin E synthase", "disease": [ { "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:1936", "name": 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHX7-1" }, { "uniprot_canonical_ac": "Q9VI25-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI25", "url": "https://www.uniprot.org/uniprotkb/Q9VI25" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 723, "chemical_mass": 81629.0, "gene_names": "Neurochondrin;CG2330;Dmel\\CG2330;NCDN;Neurochondrin", "protein_name": "Neurochondrin homolog", "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": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": 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}, { "name": "female germline ring canal stabilization", "id": "GO:0008335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008335", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP0", "url": "https://www.uniprot.org/uniprotkb/Q9VIP0" } ], "pmid": "" } ], "cellular_component": [ { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP0", "url": "https://www.uniprot.org/uniprotkb/Q9VIP0" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP0", "url": "https://www.uniprot.org/uniprotkb/Q9VIP0" } ], "pmid": "" }, { "name": "centralspindlin complex", "id": "GO:0097149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097149", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP0", "url": "https://www.uniprot.org/uniprotkb/Q9VIP0" } ], "pmid": "" }, { "name": "male 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"GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP1", "url": "https://www.uniprot.org/uniprotkb/Q9VIP1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIP1-1" }, { "uniprot_canonical_ac": "Q9VIP8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIP8", "url": "https://www.uniprot.org/uniprotkb/Q9VIP8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 367, "chemical_mass": 40608.0, "gene_names": "vls;38B.5;CG107278;CG10728;Dmel\\CG10728;Vls;dWD45;val;vls;vsl", "protein_name": "Protein valois", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VIP8", "url": 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} ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VIR2-1" }, { "uniprot_canonical_ac": "Q9VIU7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIU7", "url": "https://www.uniprot.org/uniprotkb/Q9VIU7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 241, "chemical_mass": 27002.0, "gene_names": "Dpm1;CG10166;DPM1;Dmel\\CG10166;Dol-P-ManTase;Dpm1;dDPM", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035199", "evidence": [ { "database": "UniProtKB", "id": "Q9VL84", "url": "https://www.uniprot.org/uniprotkb/Q9VL84" } ], "pmid": "" }, { "name": "sensory perception of salty taste", "id": "GO:0050914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050914", "evidence": [ { "database": "UniProtKB", "id": "Q9VL84", "url": "https://www.uniprot.org/uniprotkb/Q9VL84" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "Q9VL84", "url": "https://www.uniprot.org/uniprotkb/Q9VL84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL84-1" }, { "uniprot_canonical_ac": "Q9VL96-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL96", "url": "https://www.uniprot.org/uniprotkb/Q9VL96" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 627, "chemical_mass": 73863.0, "gene_names": "CG4364;Dmel\\CG4364", "protein_name": "Pescadillo homolog", "disease": [ { "disease_id": "DOID:0060479", "name": "Shwachman-Diamond syndrome", "description": "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.", "url": "https://disease-ontology.org/term/DOID:0060479", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VL96", "url": "https://www.uniprot.org/uniprotkb/Q9VL96" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP3", "url": "https://www.uniprot.org/uniprotkb/Q9VLP3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP3", "url": "https://www.uniprot.org/uniprotkb/Q9VLP3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP3", "url": "https://www.uniprot.org/uniprotkb/Q9VLP3" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP3", "url": "https://www.uniprot.org/uniprotkb/Q9VLP3" } ], "pmid": "" }, { "name": "post-Golgi vesicle-mediated transport", 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"id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" }, { "name": "mRNA modification", "id": "GO:0016556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016556", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": 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"name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" }, { "name": "female sex determination", "id": "GO:0030237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030237", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP7", "url": "https://www.uniprot.org/uniprotkb/Q9VLP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLP7-1" }, { "uniprot_canonical_ac": "Q9VLR9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 370, "chemical_mass": 43319.0, "gene_names": "PGAP5;CG8455;Dmel\\CG8455;PGAP5", "protein_name": "Metallophosphoesterase 1 homolog", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" }, { "name": "GPI-mannose ethanolamine phosphate phosphodiesterase activity", "id": "GO:0062050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062050", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "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": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" }, { "name": "GPI anchor biosynthetic process", "id": "GO:0006506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006506", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR9", "url": "https://www.uniprot.org/uniprotkb/Q9VLR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLR9-1" }, { "uniprot_canonical_ac": "Q9VLT1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLT1", "url": "https://www.uniprot.org/uniprotkb/Q9VLT1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1684, "chemical_mass": 186993.0, "gene_names": "mon2;CG14276;CG31756;CG8683;Dmel\\CG8683;Dmel_CG8683;Mon2;mon2;noan", "protein_name": "Protein MON2 homolog", "disease": [], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT1", "url": "https://www.uniprot.org/uniprotkb/Q9VLT1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT1", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT8", "url": "https://www.uniprot.org/uniprotkb/Q9VLT8" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT8", "url": "https://www.uniprot.org/uniprotkb/Q9VLT8" } ], "pmid": "" }, { "name": "WASH complex", "id": "GO:0071203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071203", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT8", "url": "https://www.uniprot.org/uniprotkb/Q9VLT8" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VLT8", "url": "https://www.uniprot.org/uniprotkb/Q9VLT8" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": 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transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q9VMX1", "url": "https://www.uniprot.org/uniprotkb/Q9VMX1" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "Q9VMX1", "url": "https://www.uniprot.org/uniprotkb/Q9VMX1" } ], "pmid": "" }, { "name": "central nervous system projection neuron axonogenesis", "id": "GO:0021952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021952", "evidence": [ { "database": "UniProtKB", "id": "Q9VMX1", "url": "https://www.uniprot.org/uniprotkb/Q9VMX1" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9VMX1", "url": "https://www.uniprot.org/uniprotkb/Q9VMX1" } ], "pmid": "" } ], 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smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9VNB3", "url": "https://www.uniprot.org/uniprotkb/Q9VNB3" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9VP65", "url": "https://www.uniprot.org/uniprotkb/Q9VP65" } ], "pmid": "" }, { "name": "tRNA methyltransferase activator activity", "id": "GO:0141106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141106", "evidence": [ { "database": "UniProtKB", "id": "Q9VP65", "url": "https://www.uniprot.org/uniprotkb/Q9VP65" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VP65-1" }, { "uniprot_canonical_ac": "Q9VPD5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPD5", "url": "https://www.uniprot.org/uniprotkb/Q9VPD5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 354, "chemical_mass": 41267.0, "gene_names": "mTerf3;CG5047;D-MTERF3;DmMTERF3;DmMterf3;Dmel\\CG5047;MTERF3;Mterf3;mTerf3", "protein_name": 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initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE8", "url": "https://www.uniprot.org/uniprotkb/Q9VQE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQE8-1" }, { "uniprot_canonical_ac": "Q9VQM4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 580, "chemical_mass": 64194.0, "gene_names": "Tdp1;CG8825;CG8826;Dmel\\CG8825;Gkt;Glaikit;TDP1;Tdp1;anon-23Db;c22;gkt", "protein_name": "Tyrosyl-DNA phosphodiesterase 1", "disease": [ { "disease_id": "DOID:0090115", "name": "spinocerebellar ataxia with axonal neuropathy 1", "description": "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.", "url": "https://disease-ontology.org/term/DOID:0090115", "evidence": [ { "id": "0090115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090115" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "exonuclease activity", "id": "GO:0004527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004527", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "3'-tyrosyl-DNA phosphodiesterase activity", "id": "GO:0017005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017005", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" }, { "name": "5'-tyrosyl-DNA phosphodiesterase activity", "id": "GO:0070260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070260", "evidence": [ { "database": "UniProtKB", "id": "Q9VQM4", "url": "https://www.uniprot.org/uniprotkb/Q9VQM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQM4-1" }, { "uniprot_canonical_ac": "Q9VQP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 149, "chemical_mass": 16823.0, "gene_names": "Ostc;BcDNA:AT03617;CG9662;Dmel\\CG9662", "protein_name": "Oligosaccharyltransferase complex subunit C", "disease": [], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" }, { "name": "oligosaccharyltransferase complex", "id": "GO:0008250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008250", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" }, { "name": "oligosaccharyltransferase complex A", "id": "GO:0160226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160226", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" }, { "name": "protein co-translational transfer of dolichol-linked oligosaccharide", "id": "GO:0180058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180058", "evidence": [ { "database": "UniProtKB", "id": "Q9VQP9", "url": "https://www.uniprot.org/uniprotkb/Q9VQP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQP9-1" }, { "uniprot_canonical_ac": "Q9VQS5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 405, "chemical_mass": 47173.0, "gene_names": "IFT57;CG8853;CHE-13;Che-13;Dmel\\CG8853;Hippi;IFT55;IFT57;che-13", "protein_name": "Intraflagellar transport protein 57 homolog", "disease": [ { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0060961", "name": "orofaciodigital syndrome XVIII", "description": "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.", "url": "https://disease-ontology.org/term/DOID:0060961", "evidence": [ { "id": "0060961", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060961" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" }, { "name": "intraciliary retrograde transport", "id": "GO:0035721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035721", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS5", "url": "https://www.uniprot.org/uniprotkb/Q9VQS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQS5-1" }, { "uniprot_canonical_ac": "Q9VQW6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQW6", "url": "https://www.uniprot.org/uniprotkb/Q9VQW6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 95, "chemical_mass": 10759.0, "gene_names": "CG10039;CG10039;CG43774;Dmel\\CG43774;Dmel_CG43774", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQW6-1" }, { "uniprot_canonical_ac": "Q9VQZ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 552, "chemical_mass": 62821.0, "gene_names": "Elp3;CG15433;D-elp3;Dmel/ELP3;Dmel\\CG15433;Dmel\\ELP3;ELP3;Elp3;HAT;dmHAG408;elp-3;elp3", "protein_name": "Elongator complex protein 3", "disease": [ { "disease_id": "DOID:11589", "name": "familial dysautonomia", "description": "A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.", "url": "https://disease-ontology.org/term/DOID:11589", "evidence": [ { "id": "11589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11589" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "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": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "acetyltransferase activity", "id": "GO:0016407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016407", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "tRNA uridine(34) acetyltransferase activity", "id": "GO:0106261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106261", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoskeletal matrix organization at active zone", "id": "GO:0048789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048789", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "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": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q9VQZ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQZ6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 216, "chemical_mass": 24833.0, "gene_names": "Membrin;BcDNA:SD22572;CG4780;Dmel\\CG4780;Membrin;Memb;SNARE/membrin;membrin", "protein_name": "Probable Golgi SNAP receptor complex member 2", "disease": [ { "disease_id": "DOID:0111449", "name": "progressive myoclonus epilepsy 6", "description": "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:0111449", "evidence": [ { "id": "0111449", "database": "AGR", 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"GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" }, { "name": "lumen formation, open tracheal system", "id": "GO:0035149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035149", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" } ], "molecular_function": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL2", "url": "https://www.uniprot.org/uniprotkb/Q9VRL2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRL2-1" }, { "uniprot_canonical_ac": "Q9VRL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL3", "url": "https://www.uniprot.org/uniprotkb/Q9VRL3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 138, "chemical_mass": 15936.0, "gene_names": "Pfdn4;BcDNA:SD11994;CG10635;Dmel\\CG10635;Pfdn4;pfdn4", "protein_name": "Probable prefoldin subunit 4", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL3", "url": "https://www.uniprot.org/uniprotkb/Q9VRL3" } ], "pmid": "" }, { "name": "prefoldin complex", "id": "GO:0016272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016272", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL3", "url": "https://www.uniprot.org/uniprotkb/Q9VRL3" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL3", "url": "https://www.uniprot.org/uniprotkb/Q9VRL3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL3", "url": "https://www.uniprot.org/uniprotkb/Q9VRL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRL3-1" }, { "uniprot_canonical_ac": "Q9VRN5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 195, "chemical_mass": 21594.0, "gene_names": "lin-28;BcDNA:RE05342;CG17334;Dmel\\CG17334;EP(3)0915;LIN-28;LIN28B;Lin-28;Lin28;lin-28;lin28", "protein_name": "Protein lin-28 homolog", "disease": [ { "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: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 } ], "biological_process": [ { "name": "post-embryonic digestive tract morphogenesis", "id": "GO:0048621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048621", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "positive regulation of stem cell proliferation", "id": "GO:2000648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "post-transcriptional regulation of gene expression", "id": "GO:0010608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010608", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "pre-miRNA processing", "id": "GO:0031054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031054", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "negative regulation of pre-miRNA processing", "id": "GO:2000632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000632", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "symmetric stem cell division", "id": "GO:0098724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098724", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "germ-line stem-cell niche homeostasis", "id": "GO:0060250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060250", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q9VRN5", "url": "https://www.uniprot.org/uniprotkb/Q9VRN5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRN5-1" }, { "uniprot_canonical_ac": "Q9VRP8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRP8", "url": "https://www.uniprot.org/uniprotkb/Q9VRP8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 324, "chemical_mass": 37333.0, "gene_names": "Cralbp;CG10546;CRALBP;Cralbp;Dmel\\CG10546;Dmel_CG10546", "protein_name": "", "disease": [ { "disease_id": "DOID:0050683", "name": "Bothnia retinal dystrophy", "description": "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that 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": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:11105", "name": "fundus albipunctatus", "description": "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular 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"GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS5", "url": "https://www.uniprot.org/uniprotkb/Q9VRS5" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS5", "url": "https://www.uniprot.org/uniprotkb/Q9VRS5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS5", "url": "https://www.uniprot.org/uniprotkb/Q9VRS5" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS5", "url": "https://www.uniprot.org/uniprotkb/Q9VRS5" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9VRS5", "url": "https://www.uniprot.org/uniprotkb/Q9VRS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRS5-1" }, { "uniprot_canonical_ac": "Q9VRT5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRT5", "url": "https://www.uniprot.org/uniprotkb/Q9VRT5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 436, "chemical_mass": 49202.0, "gene_names": "Dmel\\CG6602;CG6602;Dmel\\CG6602;Dmel_CG6602", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRT5-1" }, { "uniprot_canonical_ac": "Q9VRX2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRX2", "url": "https://www.uniprot.org/uniprotkb/Q9VRX2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1229, "chemical_mass": 137922.0, "gene_names": "Vps8;CG10144;Dmel\\CG10144;Vps8;anon-WO0118547.365;vps8", "protein_name": "Vacuolar protein sorting-associated protein 8 homolog", "disease": [], "biological_process": [ { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX2", "url": "https://www.uniprot.org/uniprotkb/Q9VRX2" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX2", "url": "https://www.uniprot.org/uniprotkb/Q9VRX2" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { 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"https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VRX2-1" }, { "uniprot_canonical_ac": "Q9VRX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 462, "chemical_mass": 50729.0, "gene_names": "betaTub65B;CG32396;CG8339;CT42364;Dmel\\CG32396;Tub2B;Tubb4b;betaTub65B", "protein_name": "beta-Tubulin at 65B", "disease": [], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9VRX3", "url": "https://www.uniprot.org/uniprotkb/Q9VRX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRX3-1" }, { "uniprot_canonical_ac": "Q9VS19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS19", "url": "https://www.uniprot.org/uniprotkb/Q9VS19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 605, 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"uniprot_canonical_ac": "Q9VS46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS46", "url": "https://www.uniprot.org/uniprotkb/Q9VS46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 724, "chemical_mass": 83535.0, "gene_names": "Rint1;CG8605;Dmel\\CG8605;Rint-1;Rint1;Tip20;rint1", "protein_name": "RINT1-like protein", "disease": [ { "disease_id": "DOID:0080716", "name": "infantile liver failure syndrome", "description": "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.", "url": "https://disease-ontology.org/term/DOID:0080716", "evidence": [ { "id": "0080716", "database": "AGR", "url": 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS77", "url": "https://www.uniprot.org/uniprotkb/Q9VS77" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 480, "chemical_mass": 56079.0, "gene_names": "mthl6;CG16992;Dmel\\CG16992;Mthl6;anon-WO0170980.127;anon-WO0170980.128;mth16;mthl6", "protein_name": "Probable G protein-coupled receptor Mth-like 6", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q9VS77", "url": "https://www.uniprot.org/uniprotkb/Q9VS77" } ], "pmid": "" }, { "name": "G protein-coupled peptide receptor activity", "id": "GO:0008528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008528", "evidence": [ { "database": "UniProtKB", "id": "Q9VS77", "url": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 120, "chemical_mass": 13708.0, "gene_names": "Ilp3;CG14167;DILP 3;DILP-3;DILP3;DILPs;DILP;Dilp 3;Dilp-3;Dilp1-5;Dilp3;Dilp;Dmel\\CG14167;ILP3;ILPs;IlP3;Ilp-3;Ilp3;Ilp;dILP-3;dILP3;dILp3;dIlp3;dilp 3;dilp-3;dilp3;dilp;dipl3;dlp3;dlp;ilp3", "protein_name": "Insulin-like peptide 3", "disease": [], "biological_process": [ { "name": "female mating behavior", "id": "GO:0060180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060180", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "negative regulation of entry into reproductive diapause", "id": "GO:0061964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061964", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" } ], "molecular_function": [ { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VT52", "url": "https://www.uniprot.org/uniprotkb/Q9VT52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT52-1" }, { "uniprot_canonical_ac": "Q9VT53-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 134, "chemical_mass": 15140.0, "gene_names": "Ilp4;A;BcDNA:RE27042;CG6736;DILP 4;DILP-4;DILP4;DILPs;DILP;Dilp 4;Dilp1-5;Dilp4;Dilp;Dirlp;Dmel\\CG6736;ILP4;ILPs;Ilp-4;Ilp4;Ilp;Mes3;anon-EST:CLB3;dILP4;dIlp4;dilp-4;dilp4;dilp;dlp;ilp4;mes3", "protein_name": "Insulin-like peptide 4", "disease": [ { "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 } ], "molecular_function": [ { "name": "insulin receptor binding", "id": "GO:0005158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005158", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" }, { "name": "larval feeding behavior", "id": "GO:0030536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030536", "evidence": [ { "database": "UniProtKB", "id": "Q9VT53", "url": "https://www.uniprot.org/uniprotkb/Q9VT53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT53-1" }, { "uniprot_canonical_ac": "Q9VT92-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 391, "chemical_mass": 44475.0, "gene_names": "Or67d;67d;CG14157;DmOr67d;DmelOr67d;Dmel\\CG14157;OR67d;Or67d;or67d", "protein_name": "Odorant receptor 67d", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "sensory dendrite", "id": "GO:0071683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071683", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "courtship behavior", "id": "GO:0007619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007619", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "detection of pheromone", "id": "GO:0043695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043695", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" }, { "name": "ionotropic olfactory receptor activity", "id": "GO:0170020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170020", "evidence": [ { "database": "UniProtKB", "id": "Q9VT92", "url": "https://www.uniprot.org/uniprotkb/Q9VT92" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT92-1" }, { "uniprot_canonical_ac": "Q9VTH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 721, "chemical_mass": 82510.0, "gene_names": "Plod;CG6199;Dmel\\CG6199;LH3;Plod;RE-H;anon-EST:ParkEST325;anon-WO0118547.416;dPlod;dplod;plod", "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase", "disease": [ { "disease_id": "DOID:0060231", "name": "Bruck syndrome", "description": "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.", "url": "https://disease-ontology.org/term/DOID:0060231", "evidence": [ { "id": "0060231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060231" } ], "weight": 0.0 }, { "disease_id": "DOID:0061197", "name": "BCARD syndrome", "description": "A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0061197", "evidence": [ { "id": "0061197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061197" } ], "weight": 0.0 }, { "disease_id": "DOID:0080734", "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080734", "evidence": [ { "id": "0080734", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080734" } ], "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. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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"https://www.alliancegenome.org/disease/DOID:3910" } ], "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": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" }, { "name": "procollagen-lysine 5-dioxygenase activity", "id": "GO:0008475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008475", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" }, { "name": "procollagen galactosyltransferase activity", "id": "GO:0050211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050211", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" }, { "name": "procollagen glucosyltransferase activity", "id": "GO:0033823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033823", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH0", "url": "https://www.uniprot.org/uniprotkb/Q9VTH0" } ], "pmid": "" }, { "name": "endoplasmic 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