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life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080425", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ], "weight": 0.0 }, { "disease_id": "DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0081372", "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ], "weight": 0.0 }, { "disease_id": "DOID:0111549", "name": "aplasia of lacrimal and salivary glands", "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0111549", "evidence": [ { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" } ], "weight": 0.0 }, { "disease_id": "DOID:0111566", "name": "familial isolated trichomegaly", "description": "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.", "url": "https://disease-ontology.org/term/DOID:0111566", "evidence": [ { "id": "0111566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111566" } ], "weight": 0.0 }, { "disease_id": "DOID:0111813", "name": "syndactyly type 8", "description": "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.", "url": "https://disease-ontology.org/term/DOID:0111813", "evidence": [ { "id": "0111813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111813" } ], "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:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "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: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: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: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: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: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: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: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: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: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "branching involved in open tracheal system development", "id": "GO:0060446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060446", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "primary branching, open tracheal system", "id": "GO:0007428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007428", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "secondary branching, open tracheal system", "id": "GO:0007429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007429", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "positive regulation of melanization defense response", "id": "GO:0035008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035008", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "cytoneme assembly", "id": "GO:0035231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035231", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "negative regulation of crystal cell differentiation", "id": "GO:0042690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042690", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "negative regulation of plasmatocyte differentiation", "id": "GO:0045614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045614", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "morphogen activity", "id": "GO:0016015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016015", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VDU0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 539, "chemical_mass": 59584.0, "gene_names": "Acsx4;Acsx4;CG11453;Dmel\\CG11453;Dmel_CG11453", "protein_name": "", "disease": [], "biological_process": [ { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" }, { "name": "negative regulation of triglyceride storage", "id": "GO:0010891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010891", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" }, { "name": "fatty-acyl-CoA biosynthetic process", "id": "GO:0046949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046949", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VDW0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDW0", "url": "https://www.uniprot.org/uniprotkb/Q9VDW0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 541, "chemical_mass": 60928.0, "gene_names": "Dmel\\CG7333;CG7333;Dmel\\CG7333;Dmel_CG7333", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "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:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": 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"https://www.uniprot.org/uniprotkb/Q9VHH2" } ], "pmid": "" }, { "name": "regulation of antimicrobial peptide production", "id": "GO:0002784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002784", "evidence": [ { "database": "UniProtKB", "id": "Q9VHH2", "url": "https://www.uniprot.org/uniprotkb/Q9VHH2" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9VHH2", "url": "https://www.uniprot.org/uniprotkb/Q9VHH2" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate biosynthetic process", "id": "GO:0036092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036092", "evidence": [ { "database": "UniProtKB", "id": "Q9VHH2", "url": "https://www.uniprot.org/uniprotkb/Q9VHH2" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": 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"id": "Q9VHH2", "url": "https://www.uniprot.org/uniprotkb/Q9VHH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2B5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2B5", "url": "https://www.uniprot.org/uniprotkb/Q9W2B5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 599, "chemical_mass": 68115.0, "gene_names": "ppk9;CG13489;CG13490;CG34369;Dmel\\CG34369;Dmel_CG34369;ppk9", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2B5", "url": "https://www.uniprot.org/uniprotkb/Q9W2B5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VFG2", "url": "https://www.uniprot.org/uniprotkb/Q9VFG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VFI4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFI4", "url": "https://www.uniprot.org/uniprotkb/Q9VFI4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 174, "chemical_mass": 18348.0, "gene_names": "Dmel\\CG14852;CG14852;Dmel\\CG14852;Dmel_CG14852", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VFI4-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Thr117", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 588, "chemical_mass": 63663.0, "gene_names": "Dmel\\CG4066;CG4066;Dmel\\CG4066;Dmel_CG4066", "protein_name": "", "disease": [], "biological_process": [ { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA8", "url": "https://www.uniprot.org/uniprotkb/Q9VGA8" } ], "pmid": "" } ], "cellular_component": [ { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA8", "url": "https://www.uniprot.org/uniprotkb/Q9VGA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VGW0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": 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bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VH46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH46", "url": "https://www.uniprot.org/uniprotkb/Q9VH46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 640, "chemical_mass": 71572.0, "gene_names": "Spn85F;CG12807;Dmel\\CG12807;Dmel_CG12807;Spn85F", "protein_name": "", 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cofactor II deficiency", "description": "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21.", "url": "https://disease-ontology.org/term/DOID:0111901", "evidence": [ { "id": "0111901", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111901" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13514", "name": "venous tributary occlusion of retina", "description": "", "url": "https://disease-ontology.org/term/DOID:13514", "evidence": [ { "id": "13514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13514" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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[7227]" } ], "length": 192, "chemical_mass": 22571.0, "gene_names": "DM27;CG16815;DM27;Dmel\\CG16815;Dmel_CG16815", "protein_name": "Protein Mabiki", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VK52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK52", "url": "https://www.uniprot.org/uniprotkb/Q9VK52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1114, "chemical_mass": 127704.0, "gene_names": "ACXB;AC34A;ACXB;AC;Ac34A;CG17174;DACXB;Dmel\\CG17174;Dmel_CG17174", "protein_name": "adenylate cyclase", "disease": [ { "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": 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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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q9VK52", "url": "https://www.uniprot.org/uniprotkb/Q9VK52" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK67", "url": "https://www.uniprot.org/uniprotkb/Q9VK67" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 229, "chemical_mass": 25395.0, "gene_names": "IFT43;CG5780;Dmel\\CG5780;Dmel_CG5780;IFT43", "protein_name": "", "disease": [ { "disease_id": "DOID:0080292", "name": "retinitis pigmentosa 81", "description": "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.", "url": "https://disease-ontology.org/term/DOID:0080292", "evidence": [ { "id": "0080292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080292" } ], "weight": 0.0 }, { "disease_id": "DOID:0080293", "name": "short-rib thoracic dysplasia 18 with polydactyly", "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on 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"pmid": "" } ], "cellular_component": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VKP7", "url": "https://www.uniprot.org/uniprotkb/Q9VKP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "Q9VKP7", "url": "https://www.uniprot.org/uniprotkb/Q9VKP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VKR4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 405, "chemical_mass": 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0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" }, { "name": "glycine cleavage complex", "id": "GO:0005960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005960", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" } ], "molecular_function": [ { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" }, { "name": "aminomethyltransferase activity", "id": "GO:0004047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004047", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" } ], "biological_process": [ { "name": "glycine decarboxylation via glycine cleavage system", "id": "GO:0019464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019464", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR4", "url": "https://www.uniprot.org/uniprotkb/Q9VKR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VKR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKR5", "url": "https://www.uniprot.org/uniprotkb/Q9VKR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR5", "url": "https://www.uniprot.org/uniprotkb/Q9VKR5" } ], "pmid": "" }, { "name": "hydrolase activity, acting on ester bonds", "id": "GO:0016788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016788", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR5", "url": "https://www.uniprot.org/uniprotkb/Q9VKR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VKV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 317, "chemical_mass": 34869.0, "gene_names": "MAP1B;CG5188;Dmel\\CG5188;Dmel_CG5188;MAP1B", "protein_name": "Methionine aminopeptidase", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" }, { "name": "initiator methionyl aminopeptidase activity", "id": "GO:0004239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004239", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VL65-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL65", "url": "https://www.uniprot.org/uniprotkb/Q9VL65" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 566, "chemical_mass": 66615.0, "gene_names": "TbCMF46;CG13125;CT32363;Dmel\\CG13125;Dmel_CG13125;TbCMF46;mel CG13125", "protein_name": "Dynein axonemal assembly factor 1 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VL88-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 553, "chemical_mass": 63716.0, "gene_names": "ppk18;CG13120;CG13121;CG44152;Dmel\\CG44152;Dmel_CG44152;Ppk18;ppk18", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VLJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 674, "chemical_mass": 74073.0, "gene_names": "Dmel\\CG9289;CG9289;CT26467;Dmel\\CG9289;Dmel_CG9289", "protein_name": "Carboxylesterase type B domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VLU1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 43366.0, "gene_names": "Dmel\\CG7367;CG7367;Dmel\\CG7367;Dmel_CG7367;TL", "protein_name": "Lipase domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VM25-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM25", "url": "https://www.uniprot.org/uniprotkb/Q9VM25" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 54907.0, "gene_names": "Wnt10;CG4971;D-Wnt-10;DWnt-10;DWnt10;Dm DWnt10;Dmel\\CG4971;Dmel_CG4971;Dwnt-10;Dwnt10;Wnt10;wnt10", "protein_name": "Protein Wnt", "disease": [ { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": 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"https://www.alliancegenome.org/disease/DOID:0111647" } ], "weight": 0.0 }, { "disease_id": "DOID:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.", "url": "https://disease-ontology.org/term/DOID:2121", "evidence": [ { "id": "2121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2121" } ], "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": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VM25", "url": "https://www.uniprot.org/uniprotkb/Q9VM25" } ], "pmid": "" }, { "name": "developmental growth involved in morphogenesis", "id": "GO:0060560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060560", "evidence": [ { "database": "UniProtKB", "id": "Q9VM25", "url": "https://www.uniprot.org/uniprotkb/Q9VM25" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VM44-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM44", "url": "https://www.uniprot.org/uniprotkb/Q9VM44" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 502, "chemical_mass": 57742.0, "gene_names": "Ugt307A1;CG11289;Dmel\\CG11289;Dmel_CG11289;UGT307A1;Ugt307A1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "Q9VM44", "url": "https://www.uniprot.org/uniprotkb/Q9VM44" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VM44", "url": "https://www.uniprot.org/uniprotkb/Q9VM44" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VM45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM45", "url": "https://www.uniprot.org/uniprotkb/Q9VM45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 45699.0, "gene_names": 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 480, "chemical_mass": 55356.0, "gene_names": "Dmel\\CG11322;CG11322;Dmel\\CG11322;Dmel_CG11322", "protein_name": "SprT-like domain-containing protein", "disease": [ { "disease_id": "DOID:0070595", "name": "X-linked spermatogenic failure 4", "description": "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1.", "url": "https://disease-ontology.org/term/DOID:0070595", "evidence": [ { "id": "0070595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070595" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM89", "url": "https://www.uniprot.org/uniprotkb/Q9VM89" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9VM89", "url": "https://www.uniprot.org/uniprotkb/Q9VM89" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VMA4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMA4", "url": "https://www.uniprot.org/uniprotkb/Q9VMA4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 451, "chemical_mass": 51640.0, "gene_names": "Dmel\\CG13771;CG13771;Dmel\\CG13771;Dmel_CG13771", "protein_name": "HotDog ACOT-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "acetyl-CoA hydrolase activity", "id": "GO:0003986", "url": 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"disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID:0060971", "name": "interstitial lung disease 2", "description": "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0060971", "evidence": [ { "id": "0060971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060971" } ], "weight": 0.0 }, { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0110474", "name": "autosomal recessive nonsyndromic deafness 18B", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0110474", "evidence": [ { "id": "0110474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110474" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3030", "name": "mucinous adenocarcinoma", "description": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.", "url": "https://disease-ontology.org/term/DOID:3030", "evidence": [ { "id": "3030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3030" } ], "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: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "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:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "weight": 0.0 }, { "disease_id": "DOID:8463", "name": "corneal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:8463", "evidence": [ { "id": "8463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ], "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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the 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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: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:13316", "name": "exocrine pancreatic insufficiency", "description": "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.", "url": "https://disease-ontology.org/term/DOID:13316", "evidence": [ { "id": "13316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13316" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", 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"evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W1J6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1J6", "url": "https://www.uniprot.org/uniprotkb/Q9W1J6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 176, "chemical_mass": 20482.0, "gene_names": "Dmel\\CG13561;CG13561;Dmel\\CG13561;Dmel_CG13561", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W1J7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 157, "chemical_mass": 18544.0, "gene_names": "Dmel\\CG15800;CG15800;Dmel\\CG15800;Dmel_CG15800;SkpG", "protein_name": "SKP1 component POZ domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "molecular_function": [ { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "biological_process": [ { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W1U0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1U0", "url": "https://www.uniprot.org/uniprotkb/Q9W1U0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 9898.0, "gene_names": "Dmel\\CG13545;CG13545;Dmel\\CG13545;Dmel_CG13545", "protein_name": "Cuticle protein 16.5", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2C9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 511, "chemical_mass": 57908.0, "gene_names": "Loxl2;CG4402;Dmel\\CG4402;Dmel_CG4402;Dmloxl-2;LOX;Loxl2;dmlox-2;lox2", "protein_name": "", "disease": [ { "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: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: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:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" }, { "name": "protein-lysine 6-oxidase activity", "id": "GO:0004720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004720", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2E9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 902, "chemical_mass": 97717.0, "gene_names": "Ip6k;CG10082;Dmel\\CG10082;Dmel_CG10082;Ip6k;anon-WO0172774.149;dmIP6K", "protein_name": "Kinase", "disease": [], "molecular_function": [ { "name": "inositol hexakisphosphate kinase activity", "id": "GO:0000828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "inositol hexakisphosphate 5-kinase activity", "id": "GO:0000832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000832", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "biological_process": [ { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "inositol phosphate biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W2E9-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Thr687", "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": 687, "start_aa": "Thr", "end_pos": 687, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr687", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2M5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 368, "chemical_mass": 40778.0, "gene_names": "Cht9;CG10531;Cht9;Cht;DmCHT9;DmCht9;Dmel\\CG10531;Dmel_CG10531;cht9", "protein_name": "", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12053", "name": "cryptococcosis", "description": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.", "url": "https://disease-ontology.org/term/DOID:12053", "evidence": [ { "id": "12053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12053" } ], "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": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitinase activity", "id": "GO:0004568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004568", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "endochitinase activity", "id": "GO:0008843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008843", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2Q2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 37623.0, "gene_names": "CAH15;CAH15;CG9235;Dmel\\CG9235;Dmel_CG9235", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2R9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 638, "chemical_mass": 72161.0, "gene_names": "Rph;CG11556;Dmel\\CG11556;Dmel_CG11556;Rph3A;Rph;rph", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "positive regulation of calcium ion-dependent exocytosis", "id": "GO:0045956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045956", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "calcium-dependent activation of synaptic vesicle fusion", "id": "GO:0099502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099502", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W2S7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2S7", "url": "https://www.uniprot.org/uniprotkb/Q9W2S7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 931, "chemical_mass": 108046.0, "gene_names": "pepCG2111;CG2111;Dmel\\CG2111;Dmel_CG2111;pepCG2111", "protein_name": "Aminopeptidase", "disease": 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W371", "url": "https://www.uniprot.org/uniprotkb/Q9W371" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 162, "chemical_mass": 18069.0, "gene_names": "Dmel\\CG15368;CG15368;Dmel\\CG15368;Dmel_CG15368", "protein_name": "AN1-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W371", "url": "https://www.uniprot.org/uniprotkb/Q9W371" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W394-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 239, "chemical_mass": 27518.0, "gene_names": "Dmel\\CG32708;CG32708;CG6997;Dmel\\CG32708;Dmel_CG32708", "protein_name": "Activator of basal transcription 1", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" } ], "biological_process": [ { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000472", "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000480", "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" }, { "name": "small-subunit processome assembly", "id": "GO:0034462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034462", "evidence": 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"chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q9W3E8", "url": "https://www.uniprot.org/uniprotkb/Q9W3E8" } ], "pmid": "" } ], "cellular_component": [ { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q9W3E8", "url": "https://www.uniprot.org/uniprotkb/Q9W3E8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W3P4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 655, "chemical_mass": 75015.0, "gene_names": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W3P8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3P8", "url": "https://www.uniprot.org/uniprotkb/Q9W3P8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 614, "chemical_mass": 70467.0, "gene_names": "Ir7a;7a;CG12663;DmelIR7a;Dmel\\CG12663;Dmel_CG12663;IR7a;Ir7a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P8", "url": 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"Q9W3P8", "url": "https://www.uniprot.org/uniprotkb/Q9W3P8" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P8", "url": "https://www.uniprot.org/uniprotkb/Q9W3P8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W451-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W451", "url": "https://www.uniprot.org/uniprotkb/Q9W451" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1836, "chemical_mass": 207238.0, "gene_names": "fs(1)M3;CG4790;Dmel\\CG4790;Dmel_CG4790;Fs(1)K646;fs(1)K646;fs(1)M3;fs(1)phl;fs(1)ph;fs(1)pole hole;fs(1)polehole", "protein_name": "", "disease": [], 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"biological_process": [ { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q9W451", "url": "https://www.uniprot.org/uniprotkb/Q9W451" } ], "pmid": "" }, { "name": "vitelline membrane formation involved in chorion-containing eggshell formation", "id": "GO:0007305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007305", "evidence": [ { "database": "UniProtKB", "id": "Q9W451", "url": "https://www.uniprot.org/uniprotkb/Q9W451" } ], "pmid": "" }, { "name": "terminal region determination", "id": "GO:0007362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007362", "evidence": [ { "database": "UniProtKB", "id": "Q9W451", "url": "https://www.uniprot.org/uniprotkb/Q9W451" } ], "pmid": "" }, { "name": "torso signaling pathway", "id": "GO:0008293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008293", "evidence": [ { "database": "UniProtKB", "id": "Q9W451", "url": "https://www.uniprot.org/uniprotkb/Q9W451" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W466-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W466", "url": "https://www.uniprot.org/uniprotkb/Q9W466" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 233, "chemical_mass": 26071.0, "gene_names": "Dmel\\CG12729;CG12729;Dmel\\CG12729;Dmel_CG12729", "protein_name": "PI31 proteasome regulator N-terminal domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9W4A9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4A9", "url": "https://www.uniprot.org/uniprotkb/Q9W4A9" } ], 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"P42282-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 813, "chemical_mass": 88383.0, "gene_names": "ttk;0037/17;0250/25;0438/31;04;05;06;0702/07;07;08;1049/07;10;1119/04;1184/16;1209/05;1209/10;1260/10;1281/04;1325/15;1372/08;1396/14;1418/06;14;15;16;17;25;31;3540;5125;5311;CG11558;CG1856;Dmel\\CG1856;Dmel_CG1856;E(yan)100D;FTZ-F2;TTK69;TTK88;TTKA;TTK;Tkt69;Tramtrack;Ttk69k;Ttk69;Ttk88;Ttk;anon-EST:Liang-2.9;clone 2.9;ftz-f2;ftzf2/ttk;l(3)02667;l(3)j2A1;l(3)j7B8;osn;oss;ovs;tramtrak;ttk/FTZ-F2;ttk69;ttkp69;ttk", "protein_name": "Protein tramtrack, alpha isoform", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "branching involved in open tracheal system development", "id": "GO:0060446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060446", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of tube size, open tracheal system", "id": "GO:0035151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035151", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "compound eye cone cell differentiation", "id": "GO:0042675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042675", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of compound eye cone cell fate specification", "id": "GO:0042682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042682", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "R7 cell development", "id": "GO:0045467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045467", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "R1/R6 development", "id": "GO:0048053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048053", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "myoblast fate specification", "id": "GO:0048626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048626", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "compound eye corneal lens morphogenesis", "id": "GO:0048750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048750", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "positive regulation of border follicle cell migration", "id": "GO:1903688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903688", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } 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"metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P48461", "url": "https://www.uniprot.org/uniprotkb/P48461" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "P48461", "url": "https://www.uniprot.org/uniprotkb/P48461" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48461-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Thr315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P48461", "url": "https://www.uniprot.org/uniprotkb/P48461" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P48461", "url": 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"id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "A1Z7K9", "url": "https://www.uniprot.org/uniprotkb/A1Z7K9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P11612-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P11612", "url": "https://www.uniprot.org/uniprotkb/P11612" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 314, "chemical_mass": 35980.0, "gene_names": "PpY-55A;CG10930;D19;DmPpY-55A;Dmel\\CG10930;Dmel_CG10930;PPY 55A;PPY;PpD19;PpY-55A", "protein_name": "Serine/threonine-protein phosphatase PP-Y", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P08841", "url": "https://www.uniprot.org/uniprotkb/P08841" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 454, "chemical_mass": 50849.0, "gene_names": "betaTub60D;143391_i_at;3t;B3t;BETA 60D;CG3401;D.m.BETA-60D;DTB3;Dmbeta3;Dmel\\CG3401;Dmel_CG3401;Pin;Tac;Tub2E;Tub60D;TubB60C;Tub;T;beta-Tub60D;beta-Tub6D;beta-tub;beta3 TU;beta3-Tub;beta3-tubulin;beta3TUB;beta3Tub60D;beta3Tub;beta3tub;beta3t;beta3;beta60C;betaTub3;betaTub60C;betaTub60D;betaTub;beta[[3]] tubulin;beta[[3]]-Tub;beta[[3]]-tubulin;betatub60D;betatubulin;p50/tubulin;p50;p53/tubulin;p53;tubulin", "protein_name": "Tubulin beta-3 chain", "disease": [ { "disease_id": "DOID:0050997", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome", "description": "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050997", "evidence": [ { "id": "0050997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050997" } ], "weight": 0.0 }, { "disease_id": "DOID:0060260", "name": "ptosis", "description": "An eye disease characterized by the drooping or falling of the upper or lower eyelid.", "url": "https://disease-ontology.org/term/DOID:0060260", "evidence": [ { "id": "0060260", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060260" } ], "weight": 0.0 }, { "disease_id": "DOID:0080143", "name": "congenital fibrosis of the extraocular muscles", "description": "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.", "url": "https://disease-ontology.org/term/DOID:0080143", "evidence": [ { 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P15330-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 999, "chemical_mass": 111551.0, "gene_names": "dl;CG6667;DL;Dl;Dmel\\CG6667;Dmel_CG6667;Dorsal;Dor;GSd447;NF-KB;NF-kappaB;NFkappaB;anon-EST:GressD7;dL;dl;fs(2)k10816;mat(2)dorsal;p65", "protein_name": "Embryonic polarity protein dorsal", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "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: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:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0061062", "name": "immunodeficiency 92", "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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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:0111992", "name": "immunodeficiency 53", "description": "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.", "url": "https://disease-ontology.org/term/DOID:0111992", "evidence": [ { "id": "0111992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111992" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "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: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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "subsynaptic reticulum", "id": "GO:0071212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071212", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "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": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "peripheral nervous system neuron development", "id": "GO:0048935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048935", "evidence": [ { "database": "UniProtKB", "id": "P15330", "url": "https://www.uniprot.org/uniprotkb/P15330" } ], "pmid": "" }, { "name": "positive regulation of antimicrobial peptide production", "id": 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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: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:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "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: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: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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "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: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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "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: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: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID: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:891", "name": "progressive myoclonus epilepsy", "description": "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.", "url": "https://disease-ontology.org/term/DOID:891", "evidence": [ { "id": "891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:891" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "E1JI63", "url": "https://www.uniprot.org/uniprotkb/E1JI63" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "E1JI63", "url": "https://www.uniprot.org/uniprotkb/E1JI63" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E1JI63", "url": "https://www.uniprot.org/uniprotkb/E1JI63" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "E1JI63", "url": "https://www.uniprot.org/uniprotkb/E1JI63" } ], "pmid": "" }, { "name": "cellular response to pheromone", "id": "GO:0071444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071444", "evidence": [ { "database": "UniProtKB", "id": "E1JI63", "url": "https://www.uniprot.org/uniprotkb/E1JI63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E1JI63-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Asn274", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", 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"site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "E1JI63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/E1JI63#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P29503-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P29503", "url": "https://www.uniprot.org/uniprotkb/P29503" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 754, "chemical_mass": 82325.0, "gene_names": "neur;0328/12;05;0971/15;09;1293/09;12;1315/05;15;BEST:LD21494;CG11988;Dmel\\CG11988;Dmel_CG11988;Neur;l(3)j6B12;l(3)j9B8;l(3)j9B9;l(3)j9C8;l(3)neo37;neur;neu", "protein_name": "Protein neuralized", "disease": [], 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340, "chemical_mass": 38170.0, "gene_names": "Torsin;CG3024;DTor;DmTorp4a;Dmel\\CG3024;Dmel_CG3024;EG:84H4.1;TORP4A;Torp4a;Torsin;dTor;dtorsin;dtor;torp4a;torsin", "protein_name": "Torsin-like protein", "disease": [ { "disease_id": "DOID:0050836", "name": "focal dystonia", "description": "A dystonia that is localized to a specific part of the body.", "url": "https://disease-ontology.org/term/DOID:0050836", "evidence": [ { "id": "0050836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050836" } ], "weight": 0.0 }, { "disease_id": "DOID:0060730", "name": "torsion dystonia 1", "description": "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0060730", "evidence": [ { "id": "0060730", "database": "AGR", 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"" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P19538", "url": "https://www.uniprot.org/uniprotkb/P19538" } ], "pmid": "" }, { "name": "protein 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"https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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": "parallel actin filament bundle assembly", "id": "GO:0030046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030046", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0045743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045743", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "ovarian nurse cell to oocyte transport", "id": "GO:0007300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007300", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "germarium-derived female germ-line cyst encapsulation", "id": "GO:0030708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030708", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "filtration diaphragm assembly", "id": "GO:0036058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036058", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "germarium-derived egg chamber formation", "id": "GO:0007293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007293", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "female germline ring canal formation", "id": "GO:0007301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007301", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "nephrocyte diaphragm assembly", "id": "GO:0036059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036059", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "positive regulation of sevenless signaling pathway", "id": "GO:0045874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045874", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "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": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "female germline ring canal formation, actin assembly", "id": "GO:0008302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008302", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "female germline ring canal stabilization", "id": "GO:0008335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008335", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "positive regulation of torso signaling pathway", "id": "GO:0120176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120176", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "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": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "regulation of multicellular organismal development", "id": "GO:2000026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000026", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" } ], "molecular_function": [ { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "nephrocyte diaphragm", "id": "GO:0005917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005917", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" }, { "name": "germline ring canal", "id": "GO:0045172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045172", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P00528-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Tyr434", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P00528", "url": "https://www.uniprot.org/uniprotkb/P00528" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P21750-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P21750", "url": "https://www.uniprot.org/uniprotkb/P21750" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 142, "chemical_mass": 14555.0, "gene_names": "sala;BcDNA:RE40068;CG4922;Dmel\\CG4922;Dmel_CG4922;Sala;Sal;chr2L:11486634..11486740;nsal;sala;sal", "protein_name": "Protein spalt-accessory", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21750", "url": "https://www.uniprot.org/uniprotkb/P21750" } ], "pmid": "" } ], "biological_process": [ { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P21750", "url": "https://www.uniprot.org/uniprotkb/P21750" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P07207-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2703, "chemical_mass": 288853.0, "gene_names": "N;1.1;16-178;16-55;Ax;CG3936;CT13012;Chp;Co;Dmel\\CG3936;Dmel_CG3936;EG:140G11.1;EG:163A10.2;NECD;NICD;Nicd;N;RICN;anon-EST:Liang-1.12;clone 1.12;co;dNotch;fa;l(1)3Cb;l(1)Ax;l(1)N;n[fah];nd;notch;shd;spl;swb", "protein_name": "Neurogenic locus Notch protein", "disease": [ { "disease_id": "DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0060227", "name": "Adams-Oliver syndrome", "description": "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.", "url": "https://disease-ontology.org/term/DOID:0060227", "evidence": [ { "id": "0060227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060227" } ], "weight": 0.0 }, { "disease_id": "DOID:0061227", "name": "autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1", "description": "A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0061227", "evidence": [ { "id": "0061227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061227" } ], "weight": 0.0 }, { "disease_id": "DOID:0070207", "name": "familial partial lipodystrophy type 1", "description": "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.", "url": "https://disease-ontology.org/term/DOID:0070207", "evidence": [ { "id": "0070207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070207" } ], "weight": 0.0 }, { "disease_id": "DOID:0070667", "name": "infantile myofibromatosis 2", "description": "An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0070667", "evidence": [ { "id": "0070667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070667" } ], "weight": 0.0 }, { "disease_id": "DOID:0080333", "name": "aortic valve disease 1", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0080333", "evidence": [ { "id": "0080333", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080333" } ], "weight": 0.0 }, { "disease_id": "DOID:0111035", "name": "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1", "description": "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0111035", "evidence": [ { "id": "0111035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111035" } ], "weight": 0.0 }, { "disease_id": "DOID:0111343", "name": "lateral meningocele syndrome", "description": "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.", "url": "https://disease-ontology.org/term/DOID:0111343", "evidence": [ { "id": "0111343", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111343" } ], "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: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: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: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:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "url": "https://disease-ontology.org/term/DOID:1319", "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID:2736", "name": "Hajdu-Cheney syndrome", "description": "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.", "url": "https://disease-ontology.org/term/DOID:2736", "evidence": [ { "id": "2736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2736" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3620", "name": "central nervous system cancer", "description": "A nervous system cancer that is located_in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:3620", "evidence": [ { "id": "3620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3620" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "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: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:9245", "name": "Alagille syndrome", "description": "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.", "url": "https://disease-ontology.org/term/DOID:9245", "evidence": [ { "id": "9245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9245" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "lateral inhibition", "id": "GO:0046331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046331", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "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": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial fold", "id": "GO:0060571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060571", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuroblast fate determination", "id": "GO:0007400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007400", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "retinal cell programmed cell death", "id": "GO:0046666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046666", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": "https://www.uniprot.org/uniprotkb/P07207" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "P07207", "url": 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The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "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:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "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": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "exocyst localization", "id": "GO:0051601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051601", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "sensory perception of touch", "id": "GO:0050975", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "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": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "maintenance of cell polarity", "id": "GO:0030011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030011", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "branching involved in open tracheal system development", "id": "GO:0060446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060446", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "maintenance of protein location", "id": "GO:0045185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045185", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "establishment of neuroblast polarity", "id": "GO:0045200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045200", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair outgrowth", "id": "GO:0035318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035318", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "nephrocyte filtration", "id": "GO:0097206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097206", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "ommatidial rotation", "id": "GO:0016318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016318", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "encapsulation of foreign target", "id": "GO:0035010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035010", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "cellular process involved in reproduction in multicellular organism", "id": "GO:0022412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022412", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" }, { "name": "melanization defense response", "id": "GO:0035006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035006", "evidence": [ { "database": "UniProtKB", "id": "P40793", "url": "https://www.uniprot.org/uniprotkb/P40793" } ], "pmid": "" } ], "molecular_function": [ { 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"6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the 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"https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "Rac protein signal transduction", "id": "GO:0016601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016601", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "lamellipodium 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "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": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cleavage furrow ingression", "id": "GO:0036090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036090", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "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": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "mesodermal cell migration", "id": "GO:0008078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008078", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cortical cytoskeleton organization", "id": "GO:0030865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030865", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "negative regulation of lamellipodium assembly", "id": "GO:0010593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010593", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair site selection", "id": "GO:0035320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035320", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "embryonic anterior midgut (ectodermal) morphogenesis", "id": "GO:0048615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048615", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "nephrocyte filtration", "id": "GO:0097206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097206", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "negative regulation of myotube cell migration", "id": "GO:0110125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110125", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "regulation of adherens junction organization", "id": "GO:1903391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903391", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, elongation of leading edge cells", "id": "GO:0007394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007394", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "hemocyte development", "id": "GO:0007516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007516", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "encapsulation of foreign target", "id": "GO:0035010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035010", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal closure, amnioserosa morphology change", "id": "GO:0046664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046664", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "positive regulation of border follicle cell migration", "id": "GO:1903688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903688", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "somatic muscle attachment to chitin-based cuticle", "id": "GO:0160175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160175", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P40792", "url": "https://www.uniprot.org/uniprotkb/P40792" } ], "pmid": "" } ], 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"https://disease-ontology.org/term/DOID:0112064", "evidence": [ { "id": "0112064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112064" } ], "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: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": 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"https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "inaD signaling complex", "id": "GO:0016027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016027", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "rhabdomere membrane", "id": "GO:0033583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033583", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "myosin III complex", "id": "GO:0042385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042385", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10676-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10676", "url": "https://www.uniprot.org/uniprotkb/P10676" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P10676", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10676" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "O44252-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O44252", "url": "https://www.uniprot.org/uniprotkb/O44252" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 275, "chemical_mass": 32635.0, "gene_names": "rost;CG9552;Dmel\\CG9552;Dmel_CG9552;rost", "protein_name": "Protein rolling stone", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O44252", "url": "https://www.uniprot.org/uniprotkb/O44252" } ], "pmid": "" } ], "biological_process": [ { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "O44252", "url": "https://www.uniprot.org/uniprotkb/O44252" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VIH7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 587, "chemical_mass": 67328.0, "gene_names": "sky;CG14399;CG9339;CG9340;Dmel\\CG9339;Dmel_CG9339;Sky;anon-WO0118547.455;sky", "protein_name": "GTPase-activating protein skywalker", "disease": [ { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050563", "evidence": [ { "id": "0050563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ], "weight": 0.0 }, { "disease_id": "DOID:0060475", "name": "myoclonic-atonic 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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:0080449", "name": "developmental and epileptic encephalopathy 16", "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0080449", "evidence": [ { "id": "0080449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080449" } ], "weight": 0.0 }, { "disease_id": "DOID:0110532", "name": "autosomal recessive nonsyndromic deafness 86", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110532", "evidence": [ { "id": "0110532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110532" } ], "weight": 0.0 }, { "disease_id": "DOID:0110586", "name": "autosomal dominant nonsyndromic deafness 65", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110586", "evidence": [ { "id": "0110586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110586" } ], "weight": 0.0 }, { "disease_id": "DOID:0111627", "name": "DOORS syndrome", "description": "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111627", "evidence": [ { "id": "0111627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111627" } ], "weight": 0.0 }, { "disease_id": "DOID:0111645", "name": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111645", "evidence": [ { "id": "0111645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111645" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "biological_process": [ { "name": "synaptic vesicle recycling via endosome", "id": "GO:0036466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036466", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of synaptic vesicle recycling", "id": "GO:1903422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903422", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle endosomal processing", "id": "GO:0099532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099532", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "281", "end_pos": "281", "site_lbl": "Arg281", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Reduced binding to liposomes under low phosphatidylinositol 4,5-bisphosphate (PIP2) concentrations. Reduced binding to inositol 1,4,5-trisphosphate (IP3). In contrast to wild-type, expression only partially rescues the accumulation of sub-boutonic foci.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Little effect on binding to liposomes, phosphatidylinositol 4,5-bisphosphate and inositol 1,4,5-trisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Gly543", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "In sky-1; embryonic lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "21458671", "url": "https://glygen.org/publication/PubMed/21458671" } ] } ] }, { "uniprot_canonical_ac": "Q9VIH7-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Arg79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Loss of binding to liposomes containing phosphoinositides. In contrast to wild-type protein whose expression largely rescues mutant phenotypes, expression in mutant neurons only partially rescues the increase in synapse mobility and the abherent accumulation of large cisternal or endosomal-like structures in pre-synaptic terminals observed in mutants. In addition, the number of mutants displaying defective motor coordination, defective flight, hyperactivity, increased temperature sensitivity and seziures is increased compared to mutants expressing wild-type protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprotkb/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "O76927-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 83, "chemical_mass": 9167.0, "gene_names": "RpS21;14;CG2986;Dmel\\CG2986;Dmel_CG2986;M(2)23B;RpS21;S21e;S21;l(2)03575;l(2)168/14;l(2)k16814;oho23B;oho23;rpS21", "protein_name": "Small ribosomal subunit protein eS21", "disease": [], "cellular_component": [ { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000447", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000461", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "O76927", "url": "https://www.uniprot.org/uniprotkb/O76927" } ], "pmid": "" }, { "name": 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], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O16867-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Thr53", "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": 53, "start_aa": "Thr", "end_pos": 53, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr53", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "O18334-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" } ], "common_name": "Fruit fly", "glygen_name": 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Does not cause accumulation of membranes at the base of the rhabdomeres or retinal degeneration.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "9685396", "url": "https://glygen.org/publication/PubMed/9685396" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Thr26", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Does not affect interaction with Rich.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "21835342", "url": "https://glygen.org/publication/PubMed/21835342" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Arg62", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Produces short bristles but does not alter the direction of their growth.", "evidence": [ { "database": "UniProtKB", "id": "O18334", "url": "https://www.uniprot.org/uniprotkb/O18334" }, { "database": "PubMed", "id": "10459009", "url": "https://glygen.org/publication/PubMed/10459009" } ] } ] }, { "uniprot_canonical_ac": "O18334-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Gln71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Impairs maturation of ninaE and Rh3. 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224609.0, "gene_names": "Mhc;Bsh;CG17927;DROMHC;Dm II;DmMHC;Dmel\\CG17927;DroMII;Ifm(2)2;Ifm(2)RU1;MHC;MRP;Mhc36B;Mhc;Mrp;MyHC;Myo6;Myosin;Myo;Nup;Sht;Stp;chr2L:16765388..16765564;chr2L:16781880..16782040;ifm(2)2;ifm(2)RU1;ifm(2)RU2;l(2)36Ae;l(2)M66;l(2)k10423;mMHC;mhc;sMHC", "protein_name": "Myosin heavy chain, muscle", "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: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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"https://disease-ontology.org/term/DOID:0081322", "evidence": [ { "id": "0081322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090116", "name": "spondylocarpotarsal synostosis syndrome", "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.", "url": "https://disease-ontology.org/term/DOID:0090116", "evidence": [ { "id": "0090116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090116" } ], "weight": 0.0 }, { "disease_id": "DOID:0110108", "name": "atrial heart 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"description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness 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"https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "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" } 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"https://disease-ontology.org/term/DOID:2106", "evidence": [ { "id": "2106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:384", "name": "Wolff-Parkinson-White syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:384", "evidence": [ { "id": "384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:384" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by 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"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: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 }, { "disease_id": "DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease 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}, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "P05661", "url": "https://www.uniprot.org/uniprotkb/P05661" } ], "pmid": "" }, { "name": "myofibril assembly", "id": "GO:0030239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030239", 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"uniprot_canonical_ac": "P06604-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P06604", "url": "https://www.uniprot.org/uniprotkb/P06604" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 449, "chemical_mass": 49967.0, "gene_names": "alphaTub85E;2t;85E;ALPHA 85E;CG9476;DTA3;Dmel\\CG9476;TUBA85E;Tub1D;Tub;T;a2t;aTub85E;alpha-Tub85E;alpha-Tub;alpha-tubulin;alpha-tub;alpha2t;alpha2;alpha85E-tub;alpha85E;alphaTub2;alphaTub84E;alphaTub85E;alphaTub;alphatub85E", "protein_name": "Tubulin alpha-2 chain", "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": [ { 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"P06606-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 462, "chemical_mass": 51181.0, "gene_names": "alphaTub67C;4t;67C;ALPHA 67C;CG8308;D.m.ALPHA-67C;DTA2;Dmel\\CG8308;Fs(3)Kavar;Fs(3)Kav;Fs(3)Sz14;Fs(3)Sz22;Fs(3)Tomaj;Fs(3)Tom;Kavar;Tom;Tub1E;TubA67C;Tub;T;aTub67C;alpha-Tub67C;alpha-Tubulin67C;alpha-Tub;alpha-tub67C;alpha-tubulin[4];alpha-tubulin;alpha-tub;alpha4-tubulin;alpha4-t;alpha4Tub67C;alpha4t;alpha4;alpha67C;alphaTUB;alphaTub 67C;alphaTub4;alphaTub67C;alphaTub[67C];alphaTubulin;alphaTub;alphatub67C;alphatub;gamma-Tub;mum-tub67C;tub67c;tubulin;tub", "protein_name": "Tubulin alpha-4 chain", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality 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brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0112232", "evidence": [ { "id": "0112232", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112232" } ], "weight": 0.0 }, { "disease_id": "DOID:0112234", "name": "microlissencephaly", "description": "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly.", "url": "https://disease-ontology.org/term/DOID:0112234", "evidence": [ { "id": "0112234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112234" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cortical microtubule", "id": "GO:0055028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055028", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "embryonic cleavage", "id": "GO:0040016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040016", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "female pronucleus assembly", "id": "GO:0035038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035038", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "nuclear division", "id": "GO:0000280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000280", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "sperm aster formation", "id": "GO:0035044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035044", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "pronuclear migration", "id": "GO:0035046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035046", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P06606", "url": "https://www.uniprot.org/uniprotkb/P06606" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P07663-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1218, "chemical_mass": 127364.0, "gene_names": "per;CG2647;Clk;Dmel\\CG2647;EG:155E2.4;PER;Per-2;Per;clk-6;dPER;dPer;dmper;dper;mel_per;per", "protein_name": "Period circadian protein", "disease": [ { "disease_id": "DOID:0050628", "name": "advanced sleep phase syndrome", "description": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.", "url": "https://disease-ontology.org/term/DOID:0050628", "evidence": [ { "id": "0050628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050628" } ], "weight": 0.0 }, { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0110011", "name": "advanced sleep phase syndrome 1", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110011", "evidence": [ { "id": "0110011", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110011" } ], "weight": 0.0 }, { "disease_id": "DOID:0110013", "name": "advanced sleep phase syndrome 3", "description": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.", "url": "https://disease-ontology.org/term/DOID:0110013", "evidence": [ { "id": "0110013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110013" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of locomotor rhythm", "id": "GO:1904059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904059", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian temperature homeostasis", "id": "GO:0060086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060086", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "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": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "mating behavior", "id": "GO:0007617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007617", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "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": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "entrainment of circadian clock", "id": "GO:0009649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009649", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian sleep/wake cycle", "id": "GO:0042745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042745", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "rhythmic behavior", "id": "GO:0007622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007622", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "copulation", "id": "GO:0007620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007620", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "eclosion rhythm", "id": "GO:0008062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008062", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "courtship behavior", "id": "GO:0007619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007619", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" }, { "name": "male courtship behavior, veined wing generated song production", "id": "GO:0045433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045433", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07663", "url": "https://www.uniprot.org/uniprotkb/P07663" } ], 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"name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0110117", "name": "autoimmune lymphoproliferative syndrome type 4", "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0110117", "evidence": [ { "id": "0110117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110117" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111359", "name": "large congenital melanocytic nevus", "description": "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.", "url": "https://disease-ontology.org/term/DOID:0111359", "evidence": [ { "id": "0111359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111359" } ], "weight": 0.0 }, { "disease_id": "DOID:0111461", "name": "cardiofaciocutaneous syndrome 2", "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111461", "evidence": [ { "id": "0111461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111461" } ], "weight": 0.0 }, { "disease_id": "DOID:0111530", "name": "linear nevus sebaceous syndrome", "description": "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0111530", "evidence": [ { "id": "0111530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111530" } ], "weight": 0.0 }, { "disease_id": "DOID:0111705", "name": "oculoectodermal syndrome", "description": "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111705", "evidence": [ { "id": "0111705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111705" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate 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:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "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: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" } ], 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and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "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:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "weight": 0.0 }, { "disease_id": "DOID:3165", "name": "skin benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:3165", "evidence": [ { "id": "3165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3165" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "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: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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.", "url": "https://disease-ontology.org/term/DOID:4927", "evidence": [ { "id": "4927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": "https://disease-ontology.org/term/DOID:591", "evidence": [ { "id": "591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:591" } ], "weight": 0.0 }, { "disease_id": "DOID:6726", "name": "fibrillary astrocytoma", "description": "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.", "url": "https://disease-ontology.org/term/DOID:6726", "evidence": [ { "id": "6726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6726" } ], "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:686", "name": "liver carcinoma", "description": "A liver cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID:7235", "name": "pancreatic mucinous cystadenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7235", "evidence": [ { "id": "7235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7235" } ], "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:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "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: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": 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"url": "https://www.uniprot.org/uniprotkb/P17704" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 131, "chemical_mass": 15285.0, "gene_names": "RpS17;BcDNA:RE44119;CG3922;D9;Dmel\\CG3922;M(3)67C;M(3)67;M(3)RpS17;M(3)S33;M(3)i(55);M(3)i[55];M(3)i;M(3)q;M(3L)i[55];M(3L)i;Minute;M;RPS17;RS17_DROME;Rp S17;RpS17;Rps17;S17e;anon-EST:Posey48;l(3)67BDo;l(3)dtOA4;minute;rpS17", "protein_name": "Small ribosomal subunit protein eS17", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "weight": 0.0 }, { "disease_id": "DOID:0111890", "name": "Diamond-Blackfan anemia 4", 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"id": "P17704", "url": "https://www.uniprot.org/uniprotkb/P17704" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P17704", "url": "https://www.uniprot.org/uniprotkb/P17704" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P17704", "url": "https://www.uniprot.org/uniprotkb/P17704" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "P17704", "url": "https://www.uniprot.org/uniprotkb/P17704" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P17917-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 260, "chemical_mass": 28830.0, "gene_names": "PCNA;53/13;CG9193;DmPCNA1;DmPCNA;Dmel\\CG9193;MUS209;Mus209;PCNA/mus209;PCNA1;PCNA;Pcna;dPCNA;l(2)02448;l(2)56Fa;l(2)56F;l(2)s1534;mus 209;mus209;pcna", "protein_name": "DNA sliding clamp PCNA", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0081385", "name": "ataxia-telangiectasia-like disorder 2", "description": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0081385", "evidence": [ { "id": "0081385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081385" } ], "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:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "DNA polymerase processivity factor activity", "id": "GO:0030337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030337", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" } ], "cellular_component": [ { "name": "PCNA complex", "id": "GO:0043626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043626", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "nuclear replication fork", "id": "GO:0043596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043596", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" } ], "biological_process": [ { "name": "leading strand elongation", "id": "GO:0006272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006272", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "mismatch repair", "id": "GO:0006298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006298", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "translesion synthesis", "id": "GO:0019985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019985", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "DNA-templated DNA replication", "id": "GO:0006261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006261", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "eggshell chorion gene amplification", "id": "GO:0007307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007307", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" }, { "name": "response to methyl methanesulfonate", "id": "GO:0072702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072702", "evidence": [ { "database": "UniProtKB", "id": "P17917", "url": "https://www.uniprot.org/uniprotkb/P17917" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17917-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Thr185", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 185, "start_aa": "Thr", "end_pos": 185, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr185", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "P17917", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P17917" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P17971-2", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17971", "url": "https://www.uniprot.org/uniprotkb/P17971" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 571, "chemical_mass": 64570.0, "gene_names": "Shal;CG9262;DNK[[v]]4;Dmel\\CG9262;K[[v]]4;Kv4/Shal;Kv4;SHAL2;Sh-l;ShaI;Shal;Shl;dShal;shaI;shal", "protein_name": "Potassium voltage-gated channel protein Shal", "disease": [ { "disease_id": "DOID:0050970", "name": "spinocerebellar ataxia 19/22", "description": "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor.", "url": "https://disease-ontology.org/term/DOID:0050970", "evidence": [ { "id": "0050970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050970" } ], "weight": 0.0 }, { "disease_id": "DOID:0110226", "name": "Brugada syndrome 9", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13.", "url": "https://disease-ontology.org/term/DOID:0110226", "evidence": [ { "id": "0110226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110226" } ], "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": "P17971", "url": "https://www.uniprot.org/uniprotkb/P17971" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P17971", "url": "https://www.uniprot.org/uniprotkb/P17971" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P17971", "url": "https://www.uniprot.org/uniprotkb/P17971" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P17971", "url": "https://www.uniprot.org/uniprotkb/P17971" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P29613", "url": "https://www.uniprot.org/uniprotkb/P29613" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P29615-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P29615", "url": "https://www.uniprot.org/uniprotkb/P29615" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 141, "chemical_mass": 15648.0, "gene_names": "LysP;CG9116;Dmel\\CG9116;LysP;lysP", "protein_name": "Lysozyme P", "disease": [ { "disease_id": "DOID:2326", "name": "gastroenteritis", "description": "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by 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"pmid": "" }, { "name": "histone locus body", "id": "GO:0035363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035363", "evidence": [ { "database": "UniProtKB", "id": "P35875", "url": "https://www.uniprot.org/uniprotkb/P35875" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P36241-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P36241", "url": "https://www.uniprot.org/uniprotkb/P36241" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 203, "chemical_mass": 23998.0, "gene_names": "RpL19;CG2746;Dmel\\CG2746;E(Dl)KP135;L19e;L19;M(2)60E;M(2)a;M(2)c;M60E;RPL19;Rp L19;RpL19;Rpl19;anon-EST:Posey33;l(2)SH1000;l(2)SH2 1000;l(2)k03704;rpL19;rpl19", "protein_name": "Large ribosomal subunit protein eL19", "disease": [], "molecular_function": [ { "name": "RNA 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"name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P36241", "url": "https://www.uniprot.org/uniprotkb/P36241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "P36975-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P36975", "url": "https://www.uniprot.org/uniprotkb/P36975" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 212, "chemical_mass": 23685.0, "gene_names": "Snap25;CG17676;CG17884;CG40452;Dmel\\CG40452;SNAP-25;SNAP25;Snap25;dSNAP-25;dSnap25;snap-25;snap25;snp25", "protein_name": "Synaptosomal-associated protein 25", "disease": [ { "disease_id": "DOID:0110683", "name": "developmental and epileptic encephalopathy 117", "description": "A 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} ], "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": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "regulation of 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"id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "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": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "regulation of membrane 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], "pmid": "" }, { "name": "detection of abiotic stimulus", "id": "GO:0009582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009582", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "detection of external stimulus", "id": "GO:0009581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009581", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": "https://www.uniprot.org/uniprotkb/P91645" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P91645", "url": 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"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: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": "https://disease-ontology.org/term/DOID:0080122", "evidence": [ { "id": "0080122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080122" } ], "weight": 0.0 }, { "disease_id": "DOID:0080123", "name": "mitochondrial DNA depletion syndrome 4b", "description": "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080123", "evidence": [ { "id": "0080123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080123" } ], "weight": 0.0 }, { "disease_id": "DOID:0111276", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111276", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ], "weight": 0.0 }, { "disease_id": "DOID:0111521", "name": "autosomal dominant progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111521", "evidence": [ { "id": "0111521", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111521" } ], "weight": 0.0 }, { "disease_id": "DOID:0111522", "name": "autosomal recessive progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111522", "evidence": [ { "id": "0111522", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111522" } ], "weight": 0.0 }, { "disease_id": "DOID:10787", "name": "premature menopause", "description": "An ovarian dysfunction that is the loss of normal ovarian function before age 40.", "url": "https://disease-ontology.org/term/DOID:10787", "evidence": [ { "id": "10787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10787" } ], "weight": 0.0 }, { "disease_id": "DOID:12558", "name": "chronic progressive external ophthalmoplegia", "description": "A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions.", "url": "https://disease-ontology.org/term/DOID:12558", "evidence": [ { "id": "12558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12558" } ], "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: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: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "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:700", "name": "mitochondrial metabolism disease", "description": "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.", "url": "https://disease-ontology.org/term/DOID:700", "evidence": [ { "id": "700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:700" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "DNA replication proofreading", "id": "GO:0045004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045004", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "mitochondrial DNA replication", "id": "GO:0006264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006264", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "DNA-templated DNA replication", "id": "GO:0006261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006261", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-directed DNA polymerase activity", "id": "GO:0003887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003887", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "3'-5'-DNA exonuclease activity", "id": "GO:0008296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008296", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" }, { "name": "gamma DNA polymerase complex", "id": "GO:0005760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005760", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q27607-1", "start_pos": "1009", "end_pos": "1009", "site_lbl": "Gln1009", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in the death of most mutants at the third instar stage. Only two percent survive to the pupal stage but die shortly afterwards. Five day old larvae display a severe decrease in mtDNA levels and a significant reduction in body weight.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "1038", "end_pos": "1038", "site_lbl": "His1038", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Larvae 5 days old, display a severe decrease in mtDNA levels and a significant reduction in body weight. Does not result in linear deletions of mtDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asp263", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in pupal lethality. Only half of the mutants survive to the pupal stage but die shortly afterwards. Larvae display an accumulation of point mutations and linear deletions of mtDNA. No decrease in larvae body weight. Unable to rescue the defective clearance of paternal mitochondrial nucleoids in mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "26554610", "url": "https://glygen.org/publication/PubMed/26554610" }, { "database": "PubMed", "id": "28318978", "url": "https://glygen.org/publication/PubMed/28318978" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Trp576", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Severe reduction in polymerase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "15537632", "url": "https://glygen.org/publication/PubMed/15537632" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Glu595", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of mitochondrial DNA which disrupts mitochondrial morphology; larval brains are smaller due to defective cell proliferation leading to death at the pupal stage. Leads to higher mitochondrial density in proximal nerves and muscles as well as increased flux of bidirectional mitochondrial axonal transport; when associated with 1085-S--S-1145 DEL.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "11917141", "url": "https://glygen.org/publication/PubMed/11917141" }, { "database": "PubMed", "id": "19924234", "url": "https://glygen.org/publication/PubMed/19924234" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Glu813", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Partially rescues the defective clearance of paternal mitochondrial nucleoids in mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28318978", "url": "https://glygen.org/publication/PubMed/28318978" } ] } ] }, { "uniprot_canonical_ac": "Q27607-1", "start_pos": "873", "end_pos": "873", "site_lbl": "Tyr873", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Displays increased exonuclease activity and shows replicative stalling, particularly at dATP insertion sites. Defective replication and synthesis results in decreased levels of mtDNA but does not result in multiple linear deletions in mtDNA. No effect on DNA binding.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28430993", "url": "https://glygen.org/publication/PubMed/28430993" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Severe defects in mitochondrial DNA (mtDNA) replication and synthesis results in larval lethality at the third instar stage. Exonuclease activity is increased, and displays replicative stalling, particularly at dATP insertion sites, and decreased DNA binding. Defective replication and synthesis results in decreased levels of mtDNA but does not result in multiple linear deletions in mtDNA.", "evidence": [ { "database": "UniProtKB", "id": "Q27607", "url": "https://www.uniprot.org/uniprotkb/Q27607" }, { "database": "PubMed", "id": "28430993", "url": "https://glygen.org/publication/PubMed/28430993" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VVJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 19881.0, "gene_names": "Sep15;BcDNA:SD16138;CG7484;Dmel\\CG7484;Dmel_CG7484;Prise 8;Sep15", "protein_name": "Selenoprotein F", "disease": [], "molecular_function": [ { "name": "glutathione disulfide oxidoreductase activity", "id": "GO:0015038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015038", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "biological_process": [ { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" }, { "name": "'de novo' post-translational protein folding", "id": "GO:0051084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051084", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VJ62-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ62", "url": "https://www.uniprot.org/uniprotkb/Q9VJ62" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 564, "chemical_mass": 62270.0, "gene_names": "Dmel\\CG10341;CG10341;Dmel\\CG10341;Dmel_CG10341", "protein_name": "H/ACA ribonucleoprotein complex non-core subunit NAF1", "disease": [ { "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 } ], "molecular_function": [ { "name": "RNA 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"evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal inner rim", "id": "GO:0035183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035183", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal", "id": "GO:0035324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035324", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal outer rim", "id": "GO:0035182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035182", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cytoskeleton organization", "id": "GO:0051495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051495", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "germarium-derived female germ-line cyst encapsulation", "id": "GO:0030708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030708", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "germline ring canal formation", "id": "GO:0030725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030725", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "negative regulation of lamellocyte differentiation", "id": "GO:0035204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035204", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal formation", "id": "GO:0007301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007301", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "syncytial embryo cellularization", "id": "GO:0110069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110069", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "female germline ring canal formation, actin assembly", "id": "GO:0008302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008302", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9VEN1", "url": "https://www.uniprot.org/uniprotkb/Q9VEN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q24547-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 291, "chemical_mass": 33648.0, "gene_names": "Syx1A;CG10716;CG18615;CG31136;CG5448;CT30033;Dm Syx1;DmSyx1A;Dmel\\CG31136;Dmel_CG31136;STX1;SYX 1A;SYX1A;SYX;Stx1a;Sx1A;Synx1A;Syn;Syt1A;Syx-1A;Syx1A;Syx1a;Syx1;SyxA;Syx;anon-EST:Gibbs4;anon-WO02059370.54;dSyx1;dsyn-1A;l(3)06737;syntaxin1A;syntaxin;synt;syt-1A;sytx;syx-1A;syx-1;syx1A;syx1;syx", "protein_name": "Syntaxin-1A", "disease": [ { "disease_id": "DOID:0050565", "name": "autosomal recessive nonsyndromic deafness", "description": "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode.", "url": "https://disease-ontology.org/term/DOID:0050565", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ], "weight": 0.0 }, { "disease_id": "DOID:0060774", "name": "congenital diarrhea", "description": "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.", "url": "https://disease-ontology.org/term/DOID:0060774", "evidence": [ { "id": "0060774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060774" } ], "weight": 0.0 }, { "disease_id": "DOID:0111301", "name": "generalized epilepsy with febrile seizures plus 9", "description": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0111301", "evidence": [ { "id": "0111301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111301" } ], "weight": 0.0 }, { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is 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"https://www.alliancegenome.org/disease/DOID:150" } ], "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: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": "exosomal secretion", "id": "GO:1990182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990182", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "secretion of lysosomal enzymes", "id": "GO:0033299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033299", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "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": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "haltere development", "id": "GO:0007482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007482", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "liquid clearance, open tracheal system", "id": "GO:0035002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035002", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q24547", "url": "https://www.uniprot.org/uniprotkb/Q24547" } ], "pmid": "" }, { "name": "endomembrane system", "id": 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"id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q24547", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24547" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9V8Y9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 134, "chemical_mass": 14978.0, "gene_names": "Obp56h;56h;CG13874;DmelObp56h;Dmel\\CG13874;Dmel_CG13874;OBP56h;Obp56h", "protein_name": "General odorant-binding protein 56h", "disease": [], "biological_process": [ { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y9", "url": 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} ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9VI75", "url": "https://www.uniprot.org/uniprotkb/Q9VI75" } ], "pmid": "" }, { "name": 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[], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9NFU0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9NFU0", "url": "https://www.uniprot.org/uniprotkb/Q9NFU0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 684, "chemical_mass": 76076.0, "gene_names": "Fmr1;AT24755;BcDNA:GM08679;CG6203;DFMRP;DFmr1;Dfmr;Dmel\\CG6203;Dmel_CG6203;EP(3)3517;FMR1;FMRP;FMRp;FMR;FXR;Fmr1;Fmrp;cg6203;dFMR1;dFMRP;dFMR;dFXR1;dFXRP;dFXR;dFmr1;dFmrp;dfmr1;dfmr;dfxr1;dfxr;dmfr1;fmr1;fmr", "protein_name": "Fragile X messenger ribonucleoprotein 1 homolog", "disease": [ { "disease_id": "DOID:0050879", "name": "fragile X-associated tremor/ataxia syndrome", "description": "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042688", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "negative regulation of crystal cell differentiation", "id": "GO:0042690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042690", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "amnioserosa maintenance", "id": "GO:0046665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046665", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "P52172", "url": "https://www.uniprot.org/uniprotkb/P52172" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": 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Shows self- and ph-p binding activity comparable to wild-type; when associated with V-846 and R-860.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Ile834", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Complete loss of function. Significant loss of self-binding activity. Moderate loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "836", "end_pos": "836", "site_lbl": "Gly836", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Complete loss of function. Complete loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Met846", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "No effect on function. Shows self- and ph-p binding activity comparable to wild-type; when associated with G-816 and R-860.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "848", "end_pos": "848", "site_lbl": "Met848", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "", "comment": "Complete loss of function. Significant loss of self-binding activity. Partial loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "851", "end_pos": "851", "site_lbl": "Met851", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "R", "comment": "Complete loss of function. Complete loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Lys854", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Partial loss of self- and ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "9343432", "url": "https://glygen.org/publication/PubMed/9343432" } ] } ] }, { "uniprot_canonical_ac": "Q9VHA0-1", "start_pos": "860", "end_pos": "860", "site_lbl": "Lys860", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Complete loss of function. Partial loss of self-binding activity. Complete loss of ph-p binding activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on function. Shows self- and ph-p binding activity comparable to wild-type; when associated with G-816 and V-846.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHA0", "url": "https://www.uniprot.org/uniprotkb/Q9VHA0" }, { "database": "PubMed", "id": "15280237", "url": "https://glygen.org/publication/PubMed/15280237" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q8MLY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 208, "chemical_mass": 23759.0, "gene_names": "RpS8;BcDNA:RH06886;BcDNA:SD17528;CG7808;Dmel\\CG7808;Dmel_CG7808;RPS8;Rp S8;RpS8;Rps8;S8e;S8;anon-EST:Liang-1.56;anon-EST:fe1A2;chr3R:25688477..25688608;clone 1.56", "protein_name": "Small ribosomal subunit protein eS8", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8MLY8", "url": "https://www.uniprot.org/uniprotkb/Q8MLY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q8IH24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 204, "chemical_mass": 23531.0, "gene_names": "MED31;BcDNA:GM28912;CG1057;Dmel\\CG1057;Dmel_CG1057;MED31;Med31;Trap18;dSOH1;dTRAP18;med31;p36", "protein_name": "Mediator of RNA polymerase II transcription subunit 31", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "core mediator complex", "id": "GO:0070847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070847", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "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": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "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": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "anterior/posterior axis specification, embryo", "id": "GO:0008595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008595", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q8IH24", "url": "https://www.uniprot.org/uniprotkb/Q8IH24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V9S7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1866, "chemical_mass": 198298.0, "gene_names": "RhoGAP100F;1976;CG1976;DSyd-1;DSyd1;DSyd;Dmel\\CG1976;Dmel_CG1976;Dsyd-1;RHOGAP100F;RhoGAP100F;Syd-1;Syd1;dSyd-1;dsyd-1;syd-1;syd1", "protein_name": "Rho GTPase-activating protein 100F", "disease": [], "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": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "maintenance of presynaptic active zone structure", "id": "GO:0048790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048790", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "presynaptic active zone organization", "id": "GO:1990709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990709", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "regulation of Ras protein signal transduction", "id": "GO:0046578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046578", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "axon extension involved in axon guidance", "id": "GO:0048846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048846", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "R7 cell development", "id": "GO:0045467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045467", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synaptic vesicle localization", "id": "GO:0097479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097479", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone cytoplasmic component", "id": "GO:0098831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098831", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": "https://www.uniprot.org/uniprotkb/Q9V9S7" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9V9S7", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "centrosome separation", "id": "GO:0051299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051299", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "microtubule sliding", "id": "GO:0051012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051012", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q7KNS3", "url": "https://www.uniprot.org/uniprotkb/Q7KNS3" } ], "pmid": "" }, { "name": "nuclear migration along microtubule", "id": "GO:0030473", "url": 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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:12305", "name": "Bloch-Sulzberger syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:12305", "evidence": [ { "id": "12305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12305" } ], "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:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow 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"DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:5408", "name": "Paget's disease of bone", "description": "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.", "url": "https://disease-ontology.org/term/DOID:5408", "evidence": [ { "id": "5408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5408" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": 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"acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "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": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "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": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" }, { "name": "K63-linked polyubiquitin modification-dependent protein binding", "id": "GO:0070530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070530", "evidence": [ { "database": "UniProtKB", "id": "Q9GYV5", "url": "https://www.uniprot.org/uniprotkb/Q9GYV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9U1I1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 785, "chemical_mass": 86608.0, "gene_names": "esn;CG12833;CG12835;CG43722;Dm_2R:11728;Dmel\\CG43722;Dmel_CG43722;Esn;esn", "protein_name": "Protein espinas", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"biological_process": [ { "name": "dendrite self-avoidance", "id": "GO:0070593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070593", "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9U1I1", "url": "https://www.uniprot.org/uniprotkb/Q9U1I1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9U1I1-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Thr431", "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": 431, "start_aa": "Thr", "end_pos": 431, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr431", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V3C1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 21240.0, "gene_names": "Vhl;BcDNA:RH61560;CG13221;DVhl;Dmel\\CG13221;Dmel_CG13221;Dvhl;VHL;Vhl;d-VHL;d-vhl;dVHL;dmVHL;vhl", "protein_name": "Protein Vhl", "disease": [ { "disease_id": "DOID:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "weight": 0.0 }, { "disease_id": "DOID:0060474", "name": "familial erythrocytosis 2", "description": "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060474", "evidence": [ { "id": "0060474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060474" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14175", "name": "von Hippel-Lindau disease", "description": "", "url": "https://disease-ontology.org/term/DOID:14175", "evidence": [ { "id": "14175", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14175" } ], "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: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "VCB complex", "id": "GO:0030891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030891", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "regulation of cellular response to hypoxia", "id": "GO:1900037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900037", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q9V3C1", "url": "https://www.uniprot.org/uniprotkb/Q9V3C1" 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "pmid": "" }, { "name": "neuropeptide F receptor binding", "id": "GO:0071859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071859", "evidence": [ { "database": "UniProtKB", "id": "Q9VET0", "url": "https://www.uniprot.org/uniprotkb/Q9VET0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V813-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 32018.0, "gene_names": "Mtap;CG4802;Dmel\\CG4802;Dmel_CG4802;MTAP;Mtap", "protein_name": "S-methyl-5'-thioadenosine phosphorylase", "disease": [ { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "disease_id": "DOID:0080664", "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "description": "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.", "url": "https://disease-ontology.org/term/DOID:0080664", "evidence": [ { "id": "0080664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080664" } ], "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:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "S-methyl-5-thioadenosine phosphorylase activity", "id": "GO:0017061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017061", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "biological_process": [ { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" }, { "name": "L-methionine salvage from methylthioadenosine", "id": "GO:0019509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019509", "evidence": [ { "database": "UniProtKB", "id": "Q9V813", "url": "https://www.uniprot.org/uniprotkb/Q9V813" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q24151-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 761, "chemical_mass": 86415.0, "gene_names": "Stat92E;CG4257;D-STAT;D-Stat;D-stat/stat92E;D-stat;DRODSRC;DSRC;DSTAT;DmSTAT;Dmel\\CG4257;Dmel_CG4257;Dstat 92E;Dstat92E;Dstat;Dst;MARE;SD-stat;STAT 92E;STAT92E;STAT92e;STAT92;STAT;Sta92E;Stat1alpha-like;Stat92E;Stat92e;Stat92;Stat9E;Stat;d-STAT;dSTAT92E/marelle;dSTAT92E;dSTAT;dstat;l(3)06346;l(3)j6C8;marelle;mrL;mrl stat92E;mrl;pSTAT92E;pSTAT;stat92E;stat92e;stat92;stat[92E];stat", "protein_name": "Signal transducer and transcription activator", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060478", "name": "Zika fever", "description": "A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain.", "url": "https://disease-ontology.org/term/DOID:0060478", "evidence": [ { "id": "0060478", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060478" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0080836", "name": "growth hormone insensitivity syndrome with immune dysregulation 1", "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080836", "evidence": [ { "id": "0080836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080836" } ], "weight": 0.0 }, { "disease_id": "DOID:0080837", "name": "growth hormone insensitivity syndrome with immune dysregulation 2", "description": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:0080837", "evidence": [ { "id": "0080837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080837" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:0111975", "name": "immunodeficiency 44", "description": "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.", "url": "https://disease-ontology.org/term/DOID:0111975", "evidence": [ { "id": "0111975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111975" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10966", "name": "lipoid nephrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:10966", "evidence": [ { "id": "10966", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10966" } ], "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:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1996", "name": "rectum adenocarcinoma", "description": "A rectum cancer that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:1996", "evidence": [ { "id": "1996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1996" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3261", "name": "autosomal dominant hyper-IgE syndrome 1 with recurrent infections", "description": "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.", "url": "https://disease-ontology.org/term/DOID:3261", "evidence": [ { "id": "3261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3261" } ], "weight": 0.0 }, { "disease_id": "DOID:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "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": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "primary sex determination", "id": "GO:0007538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007538", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "positive regulation of heterochromatin formation", "id": "GO:0031453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031453", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "male germ-line sex determination", "id": "GO:0019100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019100", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008348", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "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": "Q24151", "url": "https://www.uniprot.org/uniprotkb/Q24151" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber 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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: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:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "weight": 0.0 }, { "disease_id": "DOID:0111444", "name": "progressive myoclonus epilepsy 4", "description": "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.", "url": "https://disease-ontology.org/term/DOID:0111444", "evidence": [ { "id": "0111444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111444" } ], "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: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:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "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: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:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "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: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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "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: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: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID: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:891", "name": "progressive myoclonus epilepsy", "description": "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death.", "url": "https://disease-ontology.org/term/DOID:891", "evidence": [ { "id": "891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:891" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9VDD3", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": 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"uniprot_canonical_ac": "Q9VDD3-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Asn440", "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": 440, "start_aa": "Asn", "end_pos": 440, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn440", "evidence": [ { "id": "Q9VDD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9VDD3-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Asn66", "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": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "Q9VDD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VDD3#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q03720-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1200, "chemical_mass": 133102.0, "gene_names": "slo;BcDNA:GH10751;CG10693;Dmel\\CG10693;Dmel_CG10693;Dslo;SLO;Slo1;Slo;dSlo1;dSlo;dslo;fSlo;slo", "protein_name": "Calcium-activated potassium channel slowpoke", "disease": [ { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the 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potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0070578", "evidence": [ { "id": "0070578", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070578" } ], "weight": 0.0 }, { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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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: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:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "https://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", 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"name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "circadian behavior", 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"https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium-activated potassium channel activity", "id": "GO:0015269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015269", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "large conductance calcium-activated potassium channel activity", "id": "GO:0060072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060072", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q03720-1", "start_pos": "978", "end_pos": "978", "site_lbl": "Ser978", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" }, { "database": "iPTMnet", "id": "Q03720", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03720" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not affect activation of channel.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] }, { "uniprot_canonical_ac": "Q03720-1", "start_pos": "1012", "end_pos": "1012", "site_lbl": "Tyr1012", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Affects the interaction with SRC.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] }, { "uniprot_canonical_ac": "Q03720-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Tyr552", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Affects the interaction with SRC.", "evidence": [ { "database": "UniProtKB", "id": "Q03720", "url": "https://www.uniprot.org/uniprotkb/Q03720" }, { "database": "PubMed", "id": "10234050", "url": "https://glygen.org/publication/PubMed/10234050" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q01989-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1253, "chemical_mass": 143299.0, "gene_names": "jar;95F MHC;95F;CG5695;Dm 95F;Dm95F;Dmel\\CG5695;Dmel_CG5695;Dro95F;JAG;Jaguar;Jar;M6;MHC95F;MYOVI;Mhc95F;Myo1A;MyoVI;Myosin VI;dMyo6;dMyoVI;jag;jar;ms(3)06746;myo VI;myo6;myoVI;myosins VI", "protein_name": "Myosin heavy chain 95F", "disease": [ { "disease_id": "DOID:0110495", "name": "autosomal recessive nonsyndromic deafness 37", "description": "An autosomal recessive nonsyndromic deafness 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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 } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "establishment of mitotic spindle localization", "id": "GO:0040001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040001", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "nucleus localization", "id": "GO:0051647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051647", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "cell-cell junction maintenance", "id": "GO:0045217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045217", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "asymmetric protein localization involved in cell fate determination", "id": "GO:0045167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045167", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "basal protein localization", "id": "GO:0045175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045175", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "ovarian nurse cell to oocyte transport", "id": "GO:0007300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007300", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "neuroblast division", "id": "GO:0055057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055057", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "follicle cell of egg chamber migration", "id": "GO:0007297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007297", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "metamorphosis", "id": "GO:0007552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007552", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "imaginal disc morphogenesis", "id": "GO:0007560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007560", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "larval chitin-based cuticle development", "id": "GO:0008363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008363", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "morphogenesis of follicular epithelium", "id": "GO:0016333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016333", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "pseudocleavage involved in syncytial blastoderm formation", "id": "GO:0030589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030589", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin light chain binding", "id": "GO:0032027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032027", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin VI light chain binding", "id": "GO:0070856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070856", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "unconventional myosin complex", "id": "GO:0016461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016461", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin VI complex", "id": "GO:0031476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031476", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "germline ring canal", "id": "GO:0045172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045172", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "sperm individualization complex", "id": "GO:0070864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070864", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "investment cone", "id": "GO:0070865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070865", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "Q01989", "url": "https://www.uniprot.org/uniprotkb/Q01989" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VC35-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 527, "chemical_mass": 59993.0, "gene_names": "lili;BcDNA:GH12663;CG5807;Dmel\\CG5807;Dmel_CG5807;anon-WO0118547.355;lili", "protein_name": "Protein Lilipod", "disease": [ { "disease_id": "DOID:0050603", "name": "acheiropody", "description": "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene.", "url": "https://disease-ontology.org/term/DOID:0050603", "evidence": [ { "id": "0050603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050603" } ], "weight": 0.0 }, { "disease_id": "DOID:0060986", "name": "preaxial polydactyly II", "description": "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0060986", "evidence": [ { "id": "0060986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060986" } ], "weight": 0.0 }, { "disease_id": "DOID:0080006", "name": "bone development disease", "description": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:0080006", "evidence": [ { "id": "0080006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080006" } ], "weight": 0.0 }, { "disease_id": "DOID:0111350", "name": "Laurin-Sandrow syndrome", "description": "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111350", "evidence": [ { "id": "0111350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111350" } ], "weight": 0.0 }, { "disease_id": "DOID:0111564", "name": "hypoplastic or aplastic tibia with polydactyly", "description": "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111564", "evidence": [ { "id": "0111564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111564" } ], "weight": 0.0 }, { "disease_id": "DOID:0111818", "name": "syndactyly type 4", "description": "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.", "url": "https://disease-ontology.org/term/DOID:0111818", "evidence": [ { "id": "0111818", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111818" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "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": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "Q9VC35", "url": "https://www.uniprot.org/uniprotkb/Q9VC35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VEW2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEW2", "url": "https://www.uniprot.org/uniprotkb/Q9VEW2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 60, "chemical_mass": 6885.0, "gene_names": "BcDNA:AT19233;BcDNA:AT19233;CG17931;Dmel\\CG17931;Dmel_CG17931;Hero7", "protein_name": "Putative SERF-like protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VEW2", "url": "https://www.uniprot.org/uniprotkb/Q9VEW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VEK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 641, "chemical_mass": 69372.0, "gene_names": "Sur-8;CG5407;CT17146;Dmel\\CG5407;Dmel_CG5407;SUR-8;Sur-8;Sur8", "protein_name": "Leucine-rich repeat protein soc-2 homolog", "disease": [ { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0080691", "name": "Noonan syndrome-like disorder with loose anagen hair", "description": "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.", "url": "https://disease-ontology.org/term/DOID:0080691", "evidence": [ { "id": "0080691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080691" } ], "weight": 0.0 }, { "disease_id": "DOID:0080692", "name": "Noonan syndrome-like disorder with loose anagen hair 1", "description": "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25.", "url": "https://disease-ontology.org/term/DOID:0080692", "evidence": [ { "id": "0080692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080692" } ], "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 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9VEK6", "url": "https://www.uniprot.org/uniprotkb/Q9VEK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q95R48-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95R48", "url": "https://www.uniprot.org/uniprotkb/Q95R48" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 567, "chemical_mass": 63167.0, "gene_names": "Orct2;CG13610;Dmel\\CG13610;Dmel_CG13610;EP(3)1072;EP1072;Orct2;cald;orct2", "protein_name": "Organic cation transporter-like protein", "disease": [ { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "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. 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"url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "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: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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "regulation of innate immune response", "id": "GO:0045088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045088", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "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": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q24167", "url": "https://www.uniprot.org/uniprotkb/Q24167" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24167-1", "start_pos": "1102", "end_pos": "1102", "site_lbl": "Thr1102", "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": 1102, "start_aa": "Thr", "end_pos": 1102, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1102", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q05652-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 501, "chemical_mass": 56160.0, "gene_names": "pll;CG5974;Dmel\\CG5974;Dmel_CG5974;IL-1;IRAK1;PELLE/IL-1;PELLE;Pelle;Pll;p11;pll/IRAK1;pll", "protein_name": "Serine/threonine-protein kinase pelle", "disease": [ { "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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2051", "name": "maxillary sinusitis", "description": "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.", "url": "https://disease-ontology.org/term/DOID:2051", "evidence": [ { "id": "2051", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2051" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": 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{ "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "larval somatic muscle development", "id": "GO:0007526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007526", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "determination of dorsal/ventral asymmetry", "id": "GO:0048262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048262", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of metabolic process", "id": "GO:0009893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009893", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" }, { "name": "positive regulation of defense response", "id": "GO:0031349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031349", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": "https://www.uniprot.org/uniprotkb/Q05652" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q05652-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Lys240", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes activity.", "evidence": [ { "database": "UniProtKB", "id": "Q05652", "url": 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"record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VDG2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 625, "chemical_mass": 71896.0, "gene_names": "Rlip;CG11622;D-RLIP;DRLIP;Dmel\\CG11622;Dmel_CG11622;RLIP1;RLIP;RalBP1;RhoGAP-93B3;Rlip;dRLIP;dRalBP;dRlip", "protein_name": "RalA-binding protein 1", "disease": [ { "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: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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "pmid": "" } ], "biological_process": [ { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" } ], "pmid": "" }, { "name": "regulation of Ras protein signal transduction", "id": "GO:0046578", "url": 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VDG2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VDG2" } ] } ] }, { "uniprot_canonical_ac": "Q9VDG2-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ser69", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VDG2", "url": "https://www.uniprot.org/uniprotkb/Q9VDG2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VDG2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VDG2" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VD28-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 408, "chemical_mass": 47006.0, "gene_names": "JMJD6;BEST:LD22859;CG5383;Dmel\\CG5383;Dmel_CG5383;JMJD6;L0022859;PSR;PS;Psr;dPSR;psr", "protein_name": "Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6", "disease": [], "biological_process": [ { "name": "peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine", "id": "GO:0018395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018395", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { 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"Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H3R2 demethylase activity", "id": "GO:0033746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033746", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "histone H4R3 demethylase activity", "id": "GO:0033749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033749", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "peptidyl-lysine 5-dioxygenase activity", "id": "GO:0070815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070815", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "P-TEFb complex binding", "id": "GO:0106140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106140", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "dioxygenase activity", "id": "GO:0051213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051213", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VD28", "url": "https://www.uniprot.org/uniprotkb/Q9VD28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V9V9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 200, "chemical_mass": 23629.0, "gene_names": "Mnat9;CG11539;Dmel\\CG11539;Dmel_CG11539;Mnat9;NAT9", "protein_name": "Alpha/beta-tubulin-N-acetyltransferase 9", "disease": [], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "tubulin N-terminal-methionine acetyltransferase activity", "id": "GO:0120519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120519", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "protein-N-terminal amino-acid acetyltransferase activity", "id": "GO:0004596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004596", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q9V9V9", "url": "https://www.uniprot.org/uniprotkb/Q9V9V9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VBP3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1181, "chemical_mass": 127945.0, "gene_names": "Tnks;BcDNA:LD22548;CG17487;CG4719;DTNKS;Dm.pARTb;Dmel\\CG4719;Dmel_CG4719;TNKS;Tankyrase;TkrsIR;Tnks;dARTD5;dTANK;dTNKS;tankyrase", "protein_name": "Poly [ADP-ribose] polymerase tankyrase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "protein localization to chromosome, telomeric region", "id": "GO:0070198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070198", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of telomere capping", "id": "GO:1904355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904355", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "NAD+ poly-ADP-ribosyltransferase activity", "id": "GO:0003950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003950", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "NAD+-protein-aspartate ADP-ribosyltransferase activity", "id": "GO:0140806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140806", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" }, { "name": "NAD+-protein-glutamate ADP-ribosyltransferase activity", "id": "GO:0140807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140807", "evidence": [ { "database": "UniProtKB", "id": "Q9VBP3", "url": "https://www.uniprot.org/uniprotkb/Q9VBP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VBP3-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Thr621", "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": 621, "start_aa": "Thr", "end_pos": 621, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr621", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V9Y9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 364, "chemical_mass": 40907.0, "gene_names": "spn-F;03;1130/03;CG12114;Dmel\\CG12114;Dmel_CG12114;Spn-F;SpnF;l(3)S113003b;spn-F", "protein_name": "Protein spindle-F", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte axis specification", "id": "GO:0007309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007309", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte anterior/posterior axis specification", "id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "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": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton polarization", "id": "GO:0008103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008103", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "chaeta morphogenesis", "id": "GO:0008407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008407", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton organization", "id": "GO:0016325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016325", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V9Y9-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ser172", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9V9Y9", "url": "https://www.uniprot.org/uniprotkb/Q9V9Y9" }, { "database": "PubMed", "id": "26540204", "url": "https://glygen.org/publication/PubMed/26540204" }, { "database": "iPTMnet", "id": "Q9V9Y9", "url": 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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:0060131", "name": "alexithymia", "description": "An agnosia that is a deficiency in understanding, processing, or describing emotions.", "url": "https://disease-ontology.org/term/DOID:0060131", "evidence": [ { "id": "0060131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060131" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "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: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: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:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7475", "name": "diverticulitis", "description": "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.", "url": "https://disease-ontology.org/term/DOID:7475", "evidence": [ { "id": "7475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7475" } ], "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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "biological_process": [ { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "P51905", "url": "https://www.uniprot.org/uniprotkb/P51905" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": 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"https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "url": "https://disease-ontology.org/term/DOID:13189", "evidence": [ { "id": "13189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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: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:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB9", "url": "https://www.uniprot.org/uniprotkb/Q4LBB9" } ], "pmid": "" }, { "name": "G protein-coupled amine receptor activity", "id": "GO:0008227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008227", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB9", "url": "https://www.uniprot.org/uniprotkb/Q4LBB9" } ], "pmid": "" }, { "name": "octopamine receptor activity", "id": "GO:0004989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004989", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB9", "url": "https://www.uniprot.org/uniprotkb/Q4LBB9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB9", "url": 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"https://www.alliancegenome.org/disease/DOID:0111937" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate 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 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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: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: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:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:3151", "name": "skin squamous cell carcinoma", "description": "A skin carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:3151", "evidence": [ { "id": "3151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3151" } ], "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:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:37" } ], "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: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: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: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:5742", "name": "pancreatic acinar cell adenocarcinoma", "description": "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.", "url": "https://disease-ontology.org/term/DOID:5742", "evidence": [ { "id": "5742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5742" } ], "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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "positive regulation of sevenless 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}, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V9J3", "url": "https://www.uniprot.org/uniprotkb/Q9V9J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V9J3-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Gly2", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "In Src42A-myri; 63% of mutants die during embryogenesis. 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"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:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "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: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 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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:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "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:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "url": "https://disease-ontology.org/term/DOID:13189", "evidence": [ { "id": "13189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ], "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: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"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": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "regulation of actin polymerization or depolymerization", "id": "GO:0008064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008064", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010591", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", "url": "https://www.uniprot.org/uniprotkb/Q6NN85" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q6NN85", 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"https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "male germ-line stem cell population maintenance", "id": "GO:0036098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "intercellular transport", "id": "GO:0010496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010496", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "germarium-derived female germ-line cyst formation", "id": "GO:0030727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030727", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" }, { "name": "germarium-derived egg chamber formation", "id": "GO:0007293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007293", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" } ], "molecular_function": [ { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "Q9V427", "url": "https://www.uniprot.org/uniprotkb/Q9V427" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9U969-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U969", "url": "https://www.uniprot.org/uniprotkb/Q9U969" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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"evidence": [ { "database": "UniProtKB", "id": "Q06559", "url": "https://www.uniprot.org/uniprotkb/Q06559" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q06559", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q06559" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q8IMA8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMA8", "url": "https://www.uniprot.org/uniprotkb/Q8IMA8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1192, "chemical_mass": 132080.0, "gene_names": "pan;CG17964;CG32005;CG34403;DTCF;DTcf;Dm 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[7227]" } ], "length": 392, "chemical_mass": 43844.0, "gene_names": "Tre1;BEST:LD12308;CG 3171;CG3171;Dmel\\CG3171;Dmel_CG3171;LD12308;TRE;Tre-1;Tre1;Tre;anon-WO0170980.16;anon-WO0170980.17;anon-WO0170981.1;sctt;tre-1;tre1", "protein_name": "Protein trapped in endoderm-1", "disease": [ { "disease_id": "DOID:12559", "name": "idiopathic juvenile osteoporosis", "description": "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.", "url": "https://disease-ontology.org/term/DOID:12559", "evidence": [ { "id": "12559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12559" } ], "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 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"evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" }, { "name": "taste receptor activity", "id": "GO:0008527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008527", "evidence": [ { "database": "UniProtKB", "id": "P58985", "url": "https://www.uniprot.org/uniprotkb/P58985" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "P61851-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P61851", "url": "https://www.uniprot.org/uniprotkb/P61851" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 153, "chemical_mass": 15699.0, "gene_names": "Sod1;24492;CG11793;Cu-Zn SOD;Cu-Zn-SOD;Cu/Zn SOD;Cu/Zn Sod;Cu/Zn sod;Cu/Zn superoxide dismutase;Cu/Zn-SOD;Cu/ZnSOD;CuSOD;CuZn 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"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:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "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: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 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retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { 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"evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "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: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: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:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14503", "name": "neuronal ceroid lipofuscinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14503", "evidence": [ { "id": "14503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14503" } ], "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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:3613", "name": "Canavan disease", "description": "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:3613", "evidence": [ { "id": "3613", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3613" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "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:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "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:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } 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"" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" } ], "molecular_function": [ { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" }, { "name": "superoxide dismutase activity", "id": "GO:0004784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004784", "evidence": [ { "database": "UniProtKB", "id": "Q00637", "url": "https://www.uniprot.org/uniprotkb/Q00637" } ], "pmid": "" } ], 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"RpS13;CG13389;Dmel\\CG13389;Dmel_CG13389;M(2)29B;M(2)32A;M(2)32;RPS13;Rp S13;Rp17;RpS13;Rps 13;Rps13;S13;S15;l(2)k09614;rpS13", "protein_name": "Small ribosomal subunit protein uS15", "disease": [ { "disease_id": "DOID:0060036", "name": "intrinsic cardiomyopathy", "description": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.", "url": "https://disease-ontology.org/term/DOID:0060036", "evidence": [ { "id": "0060036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060036" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" }, { "name": "small ribosomal subunit rRNA binding", "id": "GO:0070181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070181", "evidence": [ { "database": "UniProtKB", "id": "Q03334", "url": "https://www.uniprot.org/uniprotkb/Q03334" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q04047-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 76977.0, "gene_names": "nonA;Bj6-1;Bj6;CG4211;Dmel\\CG4211;Dmel_CG4211;NONA;NonA;dNONO;diss;non-A;nonA/diss;nonA;nona;opm2;p54[nrb];x14", "protein_name": "Protein no-on-transient A", "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:0060817", "name": "syndromic X-linked intellectual disability 34", "description": "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in 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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: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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "phototaxis", "id": "GO:0042331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042331", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" }, { "name": "male courtship behavior, veined wing generated song production", "id": "GO:0045433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045433", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04047-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Ser236", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04047", "url": "https://www.uniprot.org/uniprotkb/Q04047" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q04047", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q04047" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q05856-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 21021.0, "gene_names": "SmB;B;CG5352;Dmel\\CG5352;SYM10;Sm B;SmB1;SmB;Smb;dSmB;l(2)SH0509;l(2)SH2 0509;smb;snRNP B", "protein_name": "Small nuclear ribonucleoprotein-associated protein B", "disease": [ { "disease_id": "DOID:0111248", "name": "cerebrocostomandibular syndrome", "description": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.", "url": "https://disease-ontology.org/term/DOID:0111248", "evidence": [ { "id": "0111248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111248" } ], "weight": 0.0 }, { "disease_id": "DOID:11983", "name": "Prader-Willi syndrome", "description": "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. 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ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "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:680", "name": "tauopathy", "description": "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.", "url": "https://disease-ontology.org/term/DOID:680", "evidence": [ { "id": "680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:680" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "U1 snRNP", "id": "GO:0005685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005685", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U4 snRNP", "id": "GO:0005687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005687", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "small nuclear ribonucleoprotein complex", "id": "GO:0030532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030532", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U5 snRNP", "id": "GO:0005682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005682", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U4/U6 x U5 tri-snRNP complex", "id": "GO:0046540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046540", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "U2-type prespliceosome", "id": "GO:0071004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071004", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "pole plasm", "id": "GO:0045495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045495", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" } ], "biological_process": [ { "name": "7-methylguanosine cap hypermethylation", "id": "GO:0036261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036261", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" }, { "name": "nuclear histone mRNA catabolic process", "id": "GO:0071045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071045", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": "https://www.uniprot.org/uniprotkb/Q05856" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q05856", "url": 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"uniprot_canonical_ac": "Q08012-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q08012", "url": "https://www.uniprot.org/uniprotkb/Q08012" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 211, "chemical_mass": 24435.0, "gene_names": "drk;24/1;CG6033;DRK;Dmel\\CG6033;Drk/Grb2;Drk;E(sev)2B;GRB2;Grb-2;Grb/drk;Grb2/drk;Grb2;P1112;Su(sev)R1;crkl;drk;l(2)10626;l(2)k13809", "protein_name": "Growth factor receptor-bound protein 2", "disease": [ { "disease_id": "DOID:0111642", "name": "autosomal recessive nonsyndromic deafness 114", "description": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.", "url": "https://disease-ontology.org/term/DOID:0111642", "evidence": [ { "id": 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} ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q08012", "url": "https://www.uniprot.org/uniprotkb/Q08012" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q08012", "url": "https://www.uniprot.org/uniprotkb/Q08012" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q08012", "url": "https://www.uniprot.org/uniprotkb/Q08012" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q08012", "url": "https://www.uniprot.org/uniprotkb/Q08012" } ], "pmid": "" }, { "name": "protein-containing complex", "id": 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"end_pos": "658", "site_lbl": "Asn658", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "No effect on RNA-binding; when associated with R-665; I-724 and R-749.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Gln665", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on RNA-binding; when associated with D-658; I-724 and R-749.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] }, { "uniprot_canonical_ac": "Q23972-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Val724", 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"No effect on RNA-binding; when associated with D-658; I-724 and R-665.", "evidence": [ { "database": "UniProtKB", "id": "Q23972", "url": "https://www.uniprot.org/uniprotkb/Q23972" }, { "database": "PubMed", "id": "12820967", "url": "https://glygen.org/publication/PubMed/12820967" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q23973-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 217, "chemical_mass": 24780.0, "gene_names": "mtrm;CG18543;D52;Dmel\\CG18543;Mtrm;anon-D52;anonD52;mtrm", "protein_name": "Protein matrimony", "disease": [], "biological_process": [ { "name": "homologous chromosome segregation", "id": "GO:0045143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045143", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "pmid": "" }, { "name": "female meiosis chromosome segregation", "id": "GO:0016321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016321", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "pmid": "" }, { "name": "regulation of meiotic cell cycle", "id": "GO:0051445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051445", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "pmid": "" }, { "name": "distributive segregation", "id": "GO:0032837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032837", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" }, { "database": "PubMed", "id": "30351378", "url": "https://glygen.org/publication/PubMed/30351378" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes interaction with polo and ability to maintain G2 arrest.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18052611", "url": "https://glygen.org/publication/PubMed/18052611" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": 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"kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q23973", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q23973" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Gly170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Arg193", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition; when associated with A-95.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Leu21", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Decreased degradation during the oocyte-to-embryo transition.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] }, { "uniprot_canonical_ac": "Q23973-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Arg95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on degradation during the oocyte-to-embryo transition; when associated with A-193.", "evidence": [ { "database": "UniProtKB", "id": "Q23973", "url": "https://www.uniprot.org/uniprotkb/Q23973" }, { "database": "PubMed", "id": "24019759", "url": "https://glygen.org/publication/PubMed/24019759" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q23983-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 292, "chemical_mass": 33000.0, "gene_names": "alphaSnap;CG6625;Dmel\\CG6625;SNAP;SnapII;Snap;a-Snap;aSnap;alpha-SNAP;alpha-Snap;alpha-snap;alphaSNAP;alphaSnap;dSNAP;dalpha-SNAP;dalphaSNAP;dsnap;l(3)77ABa;l(3)77ABc;snap", "protein_name": "Alpha-soluble NSF attachment protein", "disease": [ { "disease_id": "DOID:0070393", "name": "developmental and epileptic encephalopathy 107", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11.", "url": "https://disease-ontology.org/term/DOID:0070393", "evidence": [ { "id": "0070393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070393" } ], "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: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: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 } ], "biological_process": [ { "name": "SNARE complex disassembly", "id": "GO:0035494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035494", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "imaginal disc-derived wing expansion", "id": "GO:0048526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048526", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": 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"pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" }, { "name": "soluble NSF attachment protein activity", "id": "GO:0005483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005483", "evidence": [ { "database": "UniProtKB", "id": "Q23983", "url": "https://www.uniprot.org/uniprotkb/Q23983" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q24039-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": 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"Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24039", "url": "https://www.uniprot.org/uniprotkb/Q24039" } ], "pmid": "" }, { "name": "core-binding factor complex", "id": "GO:0016513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016513", "evidence": [ { "database": 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"" }, { "name": "oligosaccharyltransferase complex B", "id": "GO:0160227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160227", "evidence": [ { "database": "UniProtKB", "id": "Q24319", "url": "https://www.uniprot.org/uniprotkb/Q24319" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q24319", "url": "https://www.uniprot.org/uniprotkb/Q24319" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q24319", "url": "https://www.uniprot.org/uniprotkb/Q24319" } ], "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": "Q24319", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "larval central nervous system remodeling", "id": "GO:0035193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035193", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "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": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q24475", "url": "https://www.uniprot.org/uniprotkb/Q24475" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": 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skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0080263", "name": "autosomal recessive nonsyndromic deafness 108", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0080263", "evidence": [ { "id": "0080263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080263" } ], "weight": 0.0 }, { "disease_id": "DOID:0110969", "name": "brachydactyly type B1", "description": "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0110969", "evidence": [ { "id": "0110969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110969" } ], "weight": 0.0 }, { "disease_id": "DOID:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "Wnt-protein binding", "id": "GO:0017147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017147", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24488-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Asn129", "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 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"site_lbl": "Tyr565", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] }, { "uniprot_canonical_ac": "Q24488-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Tyr569", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] }, { "uniprot_canonical_ac": "Q24488-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Tyr570", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q24488", "url": "https://www.uniprot.org/uniprotkb/Q24488" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q24498-2", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 5127, "chemical_mass": 581012.0, "gene_names": "RyR;CG10844;D-RyR;DRR;DRY;DmRyR;Dmel\\CG10844;RYR;RyRs;RyR;Rya-44F;Rya-R44F;Rya-r44F;Rya-r4;Rya-r76CD;Ryr;dRyR;dRyr;dry;dya;l(2)k00424;l(2)k04913;rya-r44F;ryr", "protein_name": "Ryanodine receptor", "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:0060675", "name": "catecholaminergic polymorphic ventricular tachycardia 1", "description": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0060675", "evidence": [ { "id": "0060675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060675" } ], "weight": 0.0 }, { "disease_id": "DOID:0080990", "name": "King Denborough syndrome", "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "weight": 0.0 }, { "disease_id": "DOID:0081352", "name": "congenital myopathy 20", "description": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.", "url": "https://disease-ontology.org/term/DOID:0081352", "evidence": [ { "id": "0081352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081352" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "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: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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "store-operated calcium channel activity", "id": "GO:0015279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015279", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" } ], "biological_process": [ { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "Q24498", "url": "https://www.uniprot.org/uniprotkb/Q24498" } ], "pmid": "" }, { "name": 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"Drosophila melanogaster [7227]" } ], "length": 981, "chemical_mass": 103014.0, "gene_names": "Syn;CG3985;Dmel\\CG3985;Dsyn-1;SYN1;SYN2;SYN;Syn-1;Syn-2;Syn;synapsin;syn", "protein_name": "Synapsin", "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:0112029", "name": "non-syndromic X-linked intellectual disability 50", "description": "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.", "url": "https://disease-ontology.org/term/DOID:0112029", "evidence": [ { "id": "0112029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112029" } ], "weight": 0.0 }, { "disease_id": "DOID:0112122", "name": "X-linked epilepsy with variable learning disabilities and behavior disorders", "description": "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.", "url": "https://disease-ontology.org/term/DOID:0112122", "evidence": [ { "id": "0112122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112122" } ], "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: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: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 } ], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "terminal button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "optomotor response", "id": "GO:0071632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071632", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "cellular_component": [ { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q24546", "url": "https://www.uniprot.org/uniprotkb/Q24546" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24546-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Thr429", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", 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} ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "SAGA complex", "id": "GO:0000124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000124", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" }, { "name": "RNA polymerase II preinitiation complex assembly", "id": "GO:0051123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051123", "evidence": [ { "database": "UniProtKB", "id": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "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": "Q27272", "url": "https://www.uniprot.org/uniprotkb/Q27272" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q27350-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27350", "url": "https://www.uniprot.org/uniprotkb/Q27350" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 416, "chemical_mass": 45025.0, "gene_names": "so;CG11121;Dmel\\CG11121;Drl;SO;Sine oculis;So;ami;mda;med;old;soD;somda;so", "protein_name": "Protein sine oculis", "disease": [ { "disease_id": "DOID:0061210", "name": "branchiootic syndrome 3", "description": "A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23.", "url": "https://disease-ontology.org/term/DOID:0061210", "evidence": [ { "id": "0061210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061210" } ], "weight": 0.0 }, { "disease_id": "DOID:0110553", "name": "autosomal dominant nonsyndromic deafness 23", "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23.", "url": "https://disease-ontology.org/term/DOID:0110553", "evidence": [ { "id": "0110553", "database": "AGR", 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"batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q2MGL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q2MGL3", "url": "https://www.uniprot.org/uniprotkb/Q2MGL3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 167, "chemical_mass": 18876.0, "gene_names": "Rpp20;BcDNA:RE70209;CG12533;CG32530-ORFA;CG32530;CG33931;Dmel\\CG33931;Dmel_CG33931;Pop7;Rpp20;dRpp20", "protein_name": "Ribonuclease P protein subunit p20", "disease": [], "cellular_component": [ { "name": "nucleolar ribonuclease P complex", "id": "GO:0005655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005655", "evidence": [ { "database": "UniProtKB", "id": "Q2MGL3", "url": "https://www.uniprot.org/uniprotkb/Q2MGL3" } ], "pmid": "" }, { "name": "multimeric ribonuclease P complex", "id": "GO:0030681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030681", "evidence": [ { 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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: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: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: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9 methyltransferase activity", "id": "GO:0046974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046974", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9me2 methyltransferase activity", "id": "GO:0140947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140947", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "histone H3K9 trimethyltransferase 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"GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "female germ-line stem cell asymmetric division", "id": "GO:0048132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048132", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "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": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" }, { "name": "transposable element silencing by heterochromatin formation", "id": "GO:0141005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141005", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Thr747", "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": 747, "start_aa": "Thr", "end_pos": 747, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr747", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": "https://www.uniprot.org/uniprotkb/Q32KD2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q32KD2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q32KD2" } ] } ] }, { "uniprot_canonical_ac": "Q32KD2-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Thr217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q32KD2", "url": 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"name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13189", "name": "gout", "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.", "url": "https://disease-ontology.org/term/DOID:13189", "evidence": [ { "id": "13189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13189" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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: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:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled amine receptor activity", "id": "GO:0008227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008227", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" }, { "name": "octopamine receptor activity", "id": "GO:0004989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004989", "evidence": [ { "database": "UniProtKB", "id": "Q4LBB6", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "113", "end_pos": "113", "site_lbl": "Asn113", "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": 113, "start_aa": "Asn", "end_pos": 113, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn113", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "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": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "196", "end_pos": "196", "site_lbl": "Asn196", "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": 196, "start_aa": "Asn", "end_pos": 196, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn196", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q4LBB6-6", "start_pos": "36", "end_pos": "36", "site_lbl": "Asn36", "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": 36, "start_aa": "Asn", "end_pos": 36, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn36", "evidence": [ { "id": "Q4LBB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q4LBB6#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q4V5I9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 163, "chemical_mass": 19194.0, "gene_names": "146793_at;CG14757;Dmel\\CG14757", "protein_name": "Succinate dehydrogenase assembly factor 2-A, mitochondrial", "disease": [ { "disease_id": "DOID:0061217", "name": "pheochromocytoma/paraganglioma syndrome 2", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene.", "url": "https://disease-ontology.org/term/DOID:0061217", "evidence": [ { "id": "0061217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061217" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": 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"Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" }, { "name": "protein-FAD linkage", "id": "GO:0018293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018293", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex II assembly", "id": "GO:0034553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034553", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q4V5I9", "url": "https://www.uniprot.org/uniprotkb/Q4V5I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q4V5R4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 460, "chemical_mass": 52035.0, "gene_names": "polyph;CG12943;Dmel\\CG12943;polyph", "protein_name": "Glutamate transporter polyphemus", "disease": [ { "disease_id": "DOID:0112265", "name": "iminoglycinuria", "description": "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.", "url": "https://disease-ontology.org/term/DOID:0112265", "evidence": [ { "id": "0112265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112265" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" } ], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q4V5R4", "url": "https://www.uniprot.org/uniprotkb/Q4V5R4" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": 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{ "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q6AWN0", "url": "https://www.uniprot.org/uniprotkb/Q6AWN0" } ], "pmid": "" }, { "name": "positive regulation of reproductive process", "id": "GO:2000243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000243", "evidence": [ { "database": "UniProtKB", "id": "Q6AWN0", "url": "https://www.uniprot.org/uniprotkb/Q6AWN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q6IGX9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGX9", "url": "https://www.uniprot.org/uniprotkb/Q6IGX9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 72, "chemical_mass": 7901.0, "gene_names": 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"https://www.uniprot.org/uniprotkb/Q7KV22" } ], "pmid": "" }, { "name": "protein kinase CK2 complex", "id": "GO:0005956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005956", "evidence": [ { "database": "UniProtKB", "id": "Q7KV22", "url": "https://www.uniprot.org/uniprotkb/Q7KV22" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q7KV22", "url": "https://www.uniprot.org/uniprotkb/Q7KV22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q7KV23-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 172, "chemical_mass": 19509.0, "gene_names": "Ste:CG33247;CG32605;CG33247;Dmel\\CG33247;Ste:CG33247", "protein_name": "Stellate protein CG33247", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" }, { "name": "protein kinase CK2 complex", "id": "GO:0005956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005956", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q7KV23", "url": "https://www.uniprot.org/uniprotkb/Q7KV23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q7PLK0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 867, "chemical_mass": 99129.0, "gene_names": "AGO3;AGO-3;AGO3;Ago-3;Ago3;BEST:LD15785;CG40300;Dmel\\CG40300;ago3;dAgo3", "protein_name": "Protein argonaute-3", "disease": [], "cellular_component": [ { "name": "extrinsic component of mitochondrial outer membrane", "id": "GO:0031315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031315", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated mRNA destabilization", "id": "GO:0141009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141009", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" }, { "name": "RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism", "id": "GO:0016891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016891", "evidence": [ { "database": "UniProtKB", "id": "Q7PLK0", "url": "https://www.uniprot.org/uniprotkb/Q7PLK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q7YTY6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7YTY6", "url": "https://www.uniprot.org/uniprotkb/Q7YTY6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 372, "chemical_mass": 41179.0, "gene_names": "Spn42Dd;CG9456;Dmel\\CG9456;Spn1;Spn42Dd;sp1", "protein_name": "Serine protease inhibitor 42Dd", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "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": 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"name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q7Z2C4", "url": "https://www.uniprot.org/uniprotkb/Q7Z2C4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VAT0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAT0", "url": "https://www.uniprot.org/uniprotkb/Q9VAT0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 527, "chemical_mass": 56974.0, "gene_names": "WASp;CG1520;D-WASP;Dm WASP;DmWASP;Dmel\\CG1520;Dmel_CG1520;N-WASP;WASP;WASp;WSP;Wasp;Wsp;dWASP;wasp;wsp", "protein_name": "", "disease": [ { "disease_id": "DOID:0112128", "name": "X-linked severe congenital neutropenia", "description": "A severe congenital neutropenia that 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"evidence": [ { "database": "UniProtKB", "id": "Q9VAT0", "url": "https://www.uniprot.org/uniprotkb/Q9VAT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT0", "url": "https://www.uniprot.org/uniprotkb/Q9VAT0" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT0", "url": "https://www.uniprot.org/uniprotkb/Q9VAT0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT0", "url": "https://www.uniprot.org/uniprotkb/Q9VAT0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" }, { "name": "regulation of R7 cell differentiation", "id": "GO:0045676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045676", "evidence": [ { "database": "UniProtKB", "id": "Q8T3Y0", "url": "https://www.uniprot.org/uniprotkb/Q8T3Y0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q8WTC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 280, "chemical_mass": 33473.0, "gene_names": "bonsai;CG4207;DmMRPS15;Dmel\\CG4207;MRP-S15;bonsai;mRpS15", "protein_name": "Small ribosomal subunit protein uS15m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q8WTC1", "url": "https://www.uniprot.org/uniprotkb/Q8WTC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q94517-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 521, "chemical_mass": 58331.0, "gene_names": "HDAC1;CG7471;DHDAC1;DRpd3;DmHDAC1;DmRpd3;Dmel\\CG7471;E(var)3-64BC;HDAC-1;HDAC1;HDAC;Hdac1;Hdac;RPD3;Rpd3/HDAC;Rpd3;Su(var)3-26;Su(var)3-64B;Su(var)326;Su(var)328;dHDAC-1;dHDAC1;dRPD3;dRpd3;dmHDA401;drpd3;hdac1;l(3)04556;l(3)64Cc;rpd3;rpd[3]", "protein_name": "Histone deacetylase HDAC1", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "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:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "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:8616", "name": "Peyronie's disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8616", "evidence": [ { "id": "8616", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8616" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of response to gamma radiation", "id": "GO:2001229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001229", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "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": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "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": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" }, { "name": "dendrite guidance", "id": "GO:0070983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070983", "evidence": [ { "database": "UniProtKB", "id": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "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": "Q94517", "url": "https://www.uniprot.org/uniprotkb/Q94517" } ], "pmid": "" } ], 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q94523-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94523", "url": "https://www.uniprot.org/uniprotkb/Q94523" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 661, "chemical_mass": 72343.0, "gene_names": "SdhA;2R1;CG17246;DHSA;Dmel\\CG17246;SDH;Scs-fp;Sdh A;SdhA;Sdha;Sdh;dSDHA;scs-fp;sdhA;sdh", "protein_name": "Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial", "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:0050771", "name": "pheochromocytoma", "description": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.", "url": "https://disease-ontology.org/term/DOID:0050771", "evidence": [ { "id": "0050771", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050771" } ], "weight": 0.0 }, { "disease_id": "DOID:0050773", "name": "paraganglioma", "description": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia.", "url": "https://disease-ontology.org/term/DOID:0050773", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ], "weight": 0.0 }, { "disease_id": "DOID:0060537", "name": "mitochondrial complex II deficiency", "description": "A mitochondrial metabolism disease characterized by a highly variable phenotype. 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It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0060537", "evidence": [ { "id": "0060537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060537" } ], "weight": 0.0 }, { "disease_id": "DOID:0061220", "name": "pheochromocytoma/paraganglioma syndrome 5", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15.", "url": "https://disease-ontology.org/term/DOID:0061220", "evidence": [ { "id": "0061220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061220" } ], "weight": 0.0 }, { "disease_id": "DOID:0110435", "name": "dilated cardiomyopathy 1GG", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.", "url": "https://disease-ontology.org/term/DOID:0110435", "evidence": [ { "id": "0110435", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110435" } ], "weight": 0.0 }, { "disease_id": "DOID:10579", "name": "leukodystrophy", "description": "A cerebral degeneration characterized by dysfunction of the white matter of the brain.", "url": "https://disease-ontology.org/term/DOID:10579", "evidence": [ { "id": "10579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10579" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID:3829", "name": "pituitary adenoma", "description": "A pituitary gland benign neoplasm that derives_from glandular epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3829", "evidence": [ { "id": "3829", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3829" } ], "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:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q94523", "url": "https://www.uniprot.org/uniprotkb/Q94523" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q94523", "url": "https://www.uniprot.org/uniprotkb/Q94523" } ], "pmid": "" }, { "name": "respiratory chain complex II (succinate dehydrogenase)", "id": "GO:0045273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045273", "evidence": 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deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.", "url": "https://disease-ontology.org/term/DOID:14699", "evidence": [ { "id": "14699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14699" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", 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"https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "establishment of pole plasm mRNA localization", "id": "GO:0046595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046595", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "oocyte dorsal/ventral axis specification", "id": "GO:0007310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007310", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": "https://www.uniprot.org/uniprotkb/Q9V535" } ], "pmid": "" }, { "name": "oocyte anterior/posterior axis specification", "id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9V535", "url": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 378, "chemical_mass": 43339.0, "gene_names": "Or45a;45C.1;45a;CG1978;DOR58;Dmel\\CG1978;Or45a", "protein_name": "Odorant receptor 45a", "disease": [], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", 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"name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" }, { "name": "ionotropic olfactory receptor activity", "id": "GO:0170020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0170020", "evidence": [ { "database": "UniProtKB", "id": "Q9V568", "url": "https://www.uniprot.org/uniprotkb/Q9V568" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V589-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V589", "url": "https://www.uniprot.org/uniprotkb/Q9V589" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 396, "chemical_mass": 46324.0, "gene_names": 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"" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9V7U0", "url": "https://www.uniprot.org/uniprotkb/Q9V7U0" } ], "pmid": "" }, { "name": "protein-carbohydrate complex", "id": "GO:0032992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032992", "evidence": [ { "database": "UniProtKB", "id": "Q9V7U0", "url": "https://www.uniprot.org/uniprotkb/Q9V7U0" } ], "pmid": "" }, { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9V7U0", "url": "https://www.uniprot.org/uniprotkb/Q9V7U0" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9V7U0", "url": "https://www.uniprot.org/uniprotkb/Q9V7U0" } ], "pmid": "" }, { "name": 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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": "Q9V8Y7", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y7" } ], "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": "Q9V8Y7", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y7" } ], "pmid": "" } ], "molecular_function": [ { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y7", "url": "https://www.uniprot.org/uniprotkb/Q9V8Y7" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V8Y7", "url": 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odorant", "id": "GO:1990834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990834", "evidence": [ { "database": "UniProtKB", "id": "Q9V931", "url": "https://www.uniprot.org/uniprotkb/Q9V931" } ], "pmid": "" } ], "molecular_function": [ { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q9V931", "url": "https://www.uniprot.org/uniprotkb/Q9V931" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9V938-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V938", "url": "https://www.uniprot.org/uniprotkb/Q9V938" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 136, "chemical_mass": 15552.0, "gene_names": 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"evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "centrosome localization", "id": "GO:0051642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051642", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "regulation of fertilization", "id": "GO:0080154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080154", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "snRNA 3'-end processing", "id": "GO:0034472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034472", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "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": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "posterior mRNA localization involved in anterior/posterior axis specification", "id": "GO:0060814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060814", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" }, { "name": "RNA polymerase II transcription initiation surveillance", "id": "GO:0160240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "Q9VEX5", "url": "https://www.uniprot.org/uniprotkb/Q9VEX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VEZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 751, "chemical_mass": 86373.0, "gene_names": "IKKbeta;CG4201;DIK;DLAK;DmIKKBeta;DmIKKbeta;DmIKKb;DmIKK;DmIkkbeta;Dmel\\CG4201;Dmikkbeta;Dmikkb;IKK-beta;IKKBeta;IKKB;IKKbeta;IKKb;IKK;IK;IRD-5;IRD5;Ikkbeta;Ikkb;Ik;Ird-5;Ird5;LRK;Lak;anon-89Bd;dIKK-beta;dIKKbeta;dIKK;dLak;dmIKKbeta;ikk;ird-5;ird5/DmIkk[beta];ird5;ird[5];ird", "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit beta", "disease": [ { "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:0060647", "name": "fetal encasement syndrome", "description": "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.", "url": "https://disease-ontology.org/term/DOID:0060647", "evidence": [ { "id": "0060647", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060647" } ], "weight": 0.0 }, { "disease_id": "DOID:0111959", "name": "immunodeficiency 15B", "description": "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.", "url": "https://disease-ontology.org/term/DOID:0111959", "evidence": [ { "id": "0111959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111959" } ], "weight": 0.0 }, { "disease_id": "DOID:0111960", "name": "immunodeficiency 15A", "description": "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.", "url": "https://disease-ontology.org/term/DOID:0111960", "evidence": [ { "id": "0111960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111960" } ], "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: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: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from 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"start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VEZ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VEZ5" } ] } ] }, { "uniprot_canonical_ac": "Q9VEZ5-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Lys70", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VEZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VEZ5" }, { "database": "PubMed", "id": "10636911", "url": "https://glygen.org/publication/PubMed/10636911" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VF26-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1434, "chemical_mass": 164510.0, "gene_names": "spn-E;CG3158;Dmel\\CG3158;SPN-E;Spindle-E;Spn-E;SpnE;fs(1)hls;fs(3)hls;hes;hls;homeless;spin-E;spn E;spn-E/hls;spn-E;spnE", "protein_name": "Probable ATP-dependent RNA helicase spindle-E", "disease": [ { "disease_id": "DOID:0111913", "name": "spermatogenic failure 30", "description": "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33.", "url": "https://disease-ontology.org/term/DOID:0111913", "evidence": [ { "id": "0111913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111913" } ], "weight": 0.0 } ], "biological_process": [ { "name": "polarity specification of anterior/posterior axis", "id": "GO:0009949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009949", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "RNA localization", "id": "GO:0006403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006403", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "pole plasm assembly", "id": "GO:0007315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007315", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "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": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "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": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber formation", "id": "GO:0030720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030720", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "global gene silencing by mRNA cleavage", "id": "GO:0098795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098795", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated mRNA destabilization", "id": "GO:0141009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141009", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "piRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0140991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140991", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on RNA", "id": "GO:0008186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008186", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q9VF26", "url": "https://www.uniprot.org/uniprotkb/Q9VF26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VFB2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 20031.0, "gene_names": "mRpS10;BcDNA:GM25447;CG4247;Dmel\\CG4247;MRP-S10;MrpS10;mRpS10", "protein_name": "Small ribosomal subunit protein uS10m", "disease": [], "cellular_component": [ { "name": "mitochondrial small ribosomal subunit", "id": "GO:0005763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005763", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB2", "url": "https://www.uniprot.org/uniprotkb/Q9VFB2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VFB7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1145, "chemical_mass": 130804.0, "gene_names": "SIDL;CG6623;Dmel\\CG6623;SIDL;TRAPPC10", "protein_name": "Trafficking protein particle complex subunit 10", "disease": [ { "disease_id": "DOID:0060341", "name": "agnathia-otocephaly complex", "description": "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.", "url": "https://disease-ontology.org/term/DOID:0060341", "evidence": [ { "id": "0060341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060341" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.", "url": "https://disease-ontology.org/term/DOID:12583", "evidence": [ { "id": "12583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12583" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "TRAPPII protein complex", "id": "GO:1990071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990071", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "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": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" }, { "name": "early endosome to Golgi transport", "id": "GO:0034498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034498", "evidence": [ { "database": "UniProtKB", "id": "Q9VFB7", "url": "https://www.uniprot.org/uniprotkb/Q9VFB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VFC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFC2", "url": "https://www.uniprot.org/uniprotkb/Q9VFC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 48476.0, "gene_names": "Spn88Ea;CG18525;Dmel\\CG18525;Sp5;Spn5;Spn88Ea;sp5;spn5", "protein_name": "Serine protease inhibitor 88Ea", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is 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"rdx;0869/09;BEST:GM07940;CG10235;CG12537;CG9924;D-SPOP;Dmel\\CG12537;Dromel_CG9924_FBtr0082871_rdx_mORF;HIB;Hib;Rdx;SPOP;Spop;anon-WO0118547.577;hib;l(3)03477;l(3)2004;l(3)88Aa;l(3)A6;l(3)S086909;l(3)SG40;l(3)dsl-6;l(3)dsl6;l(3)j1D1;l(3)j4C7;mei-P19;rdx", "protein_name": "Protein roadkill", "disease": [ { "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: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" } ], 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP2", "url": "https://www.uniprot.org/uniprotkb/Q9VFP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VGP6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "common_name": "Fruit 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9VGP6", "url": "https://www.uniprot.org/uniprotkb/Q9VGP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VGR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGR2", "url": "https://www.uniprot.org/uniprotkb/Q9VGR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 437, "chemical_mass": 49068.0, "gene_names": "CG17726;Dmel\\CG17726", "protein_name": "Protein arginine methyltransferase NDUFAF7 homolog, 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"uniprot_canonical_ac": "Q9VIW7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIW7", "url": "https://www.uniprot.org/uniprotkb/Q9VIW7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 55916.0, "gene_names": "RtcB;CG9987;Dmel\\CG9987;RtcB;Rtcb", "protein_name": "RNA-splicing ligase RtcB", "disease": [ { "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 } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": 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"https://www.alliancegenome.org/disease/DOID:0050650" } ], "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:0060319", "name": "cardiac arrest", "description": "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.", "url": "https://disease-ontology.org/term/DOID:0060319", "evidence": [ { "id": "0060319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060319" } ], "weight": 0.0 }, { "disease_id": "DOID:0060334", "name": "transient neonatal diabetes mellitus", 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in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.", "url": "https://disease-ontology.org/term/DOID:0060639", "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ], "weight": 0.0 }, { "disease_id": "DOID:0061174", "name": "transient neonatal diabetes mellitus 2", "description": "A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061174", "evidence": [ { "id": "0061174", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061174" } ], "weight": 0.0 }, { "disease_id": "DOID:0070219", "name": "familial hyperinsulinemic hypoglycemia 1", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0070219", "evidence": [ { "id": "0070219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070219" } ], "weight": 0.0 }, { "disease_id": "DOID:0070600", "name": "intellectual disability and myopathy syndrome", "description": "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0070600", "evidence": [ { "id": "0070600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0110451", "name": "dilated cardiomyopathy 1O", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0110451", "evidence": [ { "id": "0110451", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110451" } ], "weight": 0.0 }, { "disease_id": "DOID:0112262", "name": "leucine-sensitive hypoglycemia of infancy", "description": "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1.", "url": "https://disease-ontology.org/term/DOID:0112262", "evidence": [ { "id": "0112262", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112262" } ], "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: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: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:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "url": "https://disease-ontology.org/term/DOID:13317", "evidence": [ { "id": "13317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VL32", "url": "https://www.uniprot.org/uniprotkb/Q9VL32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VL52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1476, "chemical_mass": 168480.0, "gene_names": "SoYb;CG31755;CG5831;Dmel\\CG31755;SoYb;soyb", "protein_name": "Putative ATP-dependent RNA helicase SoYb", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "Yb body", "id": "GO:0070725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070725", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "biological_process": [ { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "primary piRNA processing", "id": "GO:0140990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140990", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" }, { "name": "secondary piRNA processing", "id": "GO:0140965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140965", "evidence": [ { "database": "UniProtKB", "id": "Q9VL52", "url": "https://www.uniprot.org/uniprotkb/Q9VL52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VL52-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Thr247", "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": 247, "start_aa": "Thr", "end_pos": 247, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr247", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLJ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 174, "chemical_mass": 20233.0, "gene_names": "mRpL51;CG13098;Dmel\\CG13098;MRP-L51;mRpL51", "protein_name": "Large ribosomal subunit protein mL51", "disease": [], "cellular_component": [ { "name": "mitochondrial large ribosomal subunit", "id": "GO:0005762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005762", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" }, { "name": "mitochondrial ribosome", "id": "GO:0005761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005761", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "biological_process": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ9", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 38034.0, "gene_names": "CG7840;Dmel\\CG7840;cg7840", "protein_name": "Polyprenal reductase", "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 }, { "disease_id": "DOID:0050807", "name": "Kahrizi syndrome", "description": "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.", "url": "https://disease-ontology.org/term/DOID:0050807", "evidence": [ { "id": "0050807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050807" } ], "weight": 0.0 }, { "disease_id": "DOID:0080568", "name": "congenital disorder of glycosylation Iq", "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.", "url": "https://disease-ontology.org/term/DOID:0080568", "evidence": [ { "id": "0080568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080568" } ], "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": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" } ], "molecular_function": [ { "name": "3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity", "id": "GO:0047751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047751", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" }, { "name": "polyprenal reductase activity", "id": "GO:0160198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160198", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "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": "Q9VLP9", "url": "https://www.uniprot.org/uniprotkb/Q9VLP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 110, "chemical_mass": 12189.0, "gene_names": "Ssb-c31a;C31A;CG8396;Dmel\\CG8396;PC4-like;Ssb-C31a;Ssb-c31a;c31A;p11", "protein_name": "RNA polymerase II transcriptional coactivator", "disease": [], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "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": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9VLR5", "url": "https://www.uniprot.org/uniprotkb/Q9VLR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 536, "chemical_mass": 59350.0, "gene_names": "Spn28Dc;CG7219;Dm-Spn28D;Dmel\\CG7219;Spn28Dc;Spn28D;spn28D", "protein_name": "Serine protease inhibitor 28Dc", "disease": [ { "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:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050851", "name": "glomerulosclerosis", "description": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.", "url": "https://disease-ontology.org/term/DOID:0050851", "evidence": [ { "id": "0050851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050851" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0050925", "name": "small intestine carcinoid neuroendocrine tumor", "description": "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine.", "url": "https://disease-ontology.org/term/DOID:0050925", "evidence": [ { "id": "0050925", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050925" } ], "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:0060181", "name": "ischemic colitis", "description": "A colitis caused_by inadequate blood supply to the colon.", "url": "https://disease-ontology.org/term/DOID:0060181", "evidence": [ { "id": "0060181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060181" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070524", "name": "peeling skin syndrome 5", "description": "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1.", "url": "https://disease-ontology.org/term/DOID:0070524", "evidence": [ { "id": "0070524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070524" } ], "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:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:0110536", "name": "autosomal recessive nonsyndromic deafness 91", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110536", "evidence": [ { "id": "0110536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110536" } ], "weight": 0.0 }, { "disease_id": "DOID:0111046", "name": "platelet-type bleeding disorder 10", "description": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0111046", "evidence": [ { "id": "0111046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111046" } ], "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: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: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:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular 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"id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" }, { "name": "negative regulation of melanization defense response", "id": "GO:0035009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035009", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU4", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLU4-1", "start_pos": "355", "end_pos": "355", "site_lbl": "Asn355", "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": 355, "start_aa": "Asn", "end_pos": 355, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn355", "evidence": [ { "id": "Q9VLU4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VLU4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] } ], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLU6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU6", "url": "https://www.uniprot.org/uniprotkb/Q9VLU6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 118, "chemical_mass": 13323.0, "gene_names": "Sirup;BcDNA:GH18422;CG7224;Dmel\\CG7224;Sdhaf4;Sirup;anon-EST:Posey12;dSdhaf4", "protein_name": "Succinate dehydrogenase assembly factor 4, mitochondrial", "disease": [ { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized 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"evidence": [ { "database": "UniProtKB", "id": "Q9VLU6", "url": "https://www.uniprot.org/uniprotkb/Q9VLU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.4" }, { "uniprot_canonical_ac": "Q9VLV5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLV5", "url": "https://www.uniprot.org/uniprotkb/Q9VLV5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 94, "chemical_mass": 11096.0, "gene_names": "SmE;BcDNA:GM19936;CG18591;Dmel\\CG18591;E-Sm;E;SmE;dE;snRNPE", "protein_name": "Probable small nuclear ribonucleoprotein E", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", 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