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"" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": "GO:0034314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034314", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:0034315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034315", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": "https://www.uniprot.org/uniprotkb/Q7JW27" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q7JW27", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" } ], "biological_process": [ { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" }, { "name": "very long-chain fatty acid beta-oxidation", "id": "GO:0140493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140493", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7KML2-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Tyr544", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "Q7KML2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7KML2" } ] } ] }, { "uniprot_canonical_ac": "Q7KML2-1", "start_pos": "551", "end_pos": "551", "site_lbl": "Ser551", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "Q7KML2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7KML2" } ] } ] }, { "uniprot_canonical_ac": "Q7KML2-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Asn250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "No effect on VLCA levels. Increases dimerization. Induces a high level of ROS and severe axonal loss. Lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q7KML2", "url": "https://www.uniprot.org/uniprotkb/Q7KML2" }, { "database": "PubMed", "id": "32169171", "url": "https://glygen.org/publication/PubMed/32169171" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q7KPA5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 331, "chemical_mass": 37064.0, "gene_names": "mei-W68;CG30132;CG7753;Dmel\\CG7753;Mei-W68;Mei-w68;MeiW68;SPO11;Spo-11;Spo11;W68;l(2)k05603;mei W-68;mei-W68;mei-w68;meiW68;mei;spo11", "protein_name": "Meiotic recombination protein W68", "disease": [], "biological_process": [ { "name": "late meiotic recombination nodule assembly", "id": "GO:0042140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042140", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "meiotic DNA double-strand break formation", "id": "GO:0042138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042138", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "DNA topological change", "id": "GO:0006265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006265", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "meiotic DNA double-strand break processing", "id": "GO:0000706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000706", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "early meiotic recombination nodule assembly", "id": "GO:0042139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042139", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity", "id": "GO:0003918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003918", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "Q7KPA5", "url": "https://www.uniprot.org/uniprotkb/Q7KPA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q7KR10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KR10", "url": "https://www.uniprot.org/uniprotkb/Q7KR10" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 521, "chemical_mass": 60275.0, "gene_names": "Cyp12d1-d;12D1;12d1;CG18239;CG18240;CG33503;CT26082;CYP12A2;CYP12D1;CYP12d1-d;Cyp 12d1;Cyp12d1-d;Cyp12d1;Cyp12d2;Cyp12d;Dmel\\CG33503;cyp12d1-d;cyp12d1", "protein_name": "Probable cytochrome P450 12d1 distal, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the 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"GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8IQ72", "url": "https://www.uniprot.org/uniprotkb/Q8IQ72" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8IQ72", "url": "https://www.uniprot.org/uniprotkb/Q8IQ72" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8IQ72", "url": "https://www.uniprot.org/uniprotkb/Q8IQ72" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050909", "evidence": [ { "database": "UniProtKB", "id": "Q8IQ72", "url": "https://www.uniprot.org/uniprotkb/Q8IQ72" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated channel activity", "id": "GO:0022834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022834", "evidence": [ { "database": "UniProtKB", "id": "Q8IQ72", "url": "https://www.uniprot.org/uniprotkb/Q8IQ72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q8IQF1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IQF1", "url": "https://www.uniprot.org/uniprotkb/Q8IQF1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 565, "chemical_mass": 63258.0, "gene_names": "Mocs1;CG33048;CG7858;Dmel\\CG33048;MOCS1A;MOCS1B;MOCSI;Mocs1A-B;Mocs1A;Mocs1B;Mocs1;MocsI;Mosc1A+Mosc1B;lxd;mocsI;pfs", "protein_name": "Molybdenum cofactor biosynthesis protein 1", "disease": [ { "disease_id": "DOID:0111164", "name": "molybdenum cofactor deficiency type A", "description": "A molybdenum cofactor 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"database": "UniProtKB", "id": "Q8IQF1", "url": "https://www.uniprot.org/uniprotkb/Q8IQF1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8IQF1", "url": "https://www.uniprot.org/uniprotkb/Q8IQF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q8IRE4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRE4", "url": "https://www.uniprot.org/uniprotkb/Q8IRE4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 457, "chemical_mass": 53074.0, "gene_names": "CG12032;CG32281;Dmel\\CG32281", "protein_name": "tRNA (guanine(37)-N(1))-methyltransferase", "disease": [ { "disease_id": "DOID:0060536", "name": 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0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 205, "start_aa": "Thr", "end_pos": 205, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr205", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q95078-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95078", "url": "https://www.uniprot.org/uniprotkb/Q95078" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 538, "chemical_mass": 61949.0, "gene_names": "Cyp18a1;181H6T;18a1;26-hyd;CG6816;CT20826;CYP18A1-Dm;CYP18A1;CYP18;Cyp18A1;Cyp18a1;Cyp18;Cyt-P450-17C;CytP450;Dmel\\CG6816;ESTS:181H6T;Eig17-1;P-450;P450;cyp18a1;cyp18", "protein_name": "Cytochrome P450 18a1", "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:0050083", "name": "Keshan disease", "description": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080665", "name": "warfarin resistance", "description": "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin.", "url": "https://disease-ontology.org/term/DOID:0080665", "evidence": [ { "id": "0080665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080665" } ], "weight": 0.0 }, { "disease_id": "DOID:0080887", "name": "vitamin D-dependent rickets type 1B", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0080887", "evidence": [ { "id": "0080887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080887" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0110808", "name": "hereditary spastic paraplegia 56", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.", "url": "https://disease-ontology.org/term/DOID:0110808", "evidence": [ { "id": "0110808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110808" } ], "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:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:13839", "name": "extrapyramidal and movement disease", "description": "", "url": "https://disease-ontology.org/term/DOID:13839", "evidence": [ { "id": "13839", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13839" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "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: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: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:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "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: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: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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": 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"url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A 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{ "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "Golgi to plasma membrane protein transport", "id": "GO:0043001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043001", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "regulation of intracellular protein transport", "id": "GO:0033157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033157", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "positive regulation of Wnt protein secretion", "id": "GO:0061357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061357", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "Wnt protein secretion", "id": "GO:0061355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061355", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "trans-synaptic signaling via exosome", "id": "GO:0099157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099157", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" } ], "pmid": "" }, { "name": "imaginal disc-derived wing margin 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[], "sites": [ { "uniprot_canonical_ac": "Q95ST2-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "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": 180, "start_aa": "Thr", "end_pos": 180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr180", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q95ST2-1", "start_pos": "513", "end_pos": "513", "site_lbl": "Thr513", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", 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"Q95ST2-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Pro250", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "In wls-2; Homozygous lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q95ST2", "url": "https://www.uniprot.org/uniprotkb/Q95ST2" }, { "database": "PubMed", "id": "16678095", "url": "https://glygen.org/publication/PubMed/16678095" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q95SX8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95SX8", "url": "https://www.uniprot.org/uniprotkb/Q95SX8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 276, "chemical_mass": 31869.0, "gene_names": "Naa60;CG18177;DmAAF50213;Dmel\\CG18177;Hat4;NAA60;Naa60;NatF;dNAA60;dNaa60;dNatF", "protein_name": "N-alpha-acetyltransferase 60", "disease": [], "cellular_component": 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"molecular_function": [ { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "Q95SX8", "url": "https://www.uniprot.org/uniprotkb/Q95SX8" } ], "pmid": "" }, { "name": "histone H4 acetyltransferase activity", "id": "GO:0010485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010485", "evidence": [ { "database": "UniProtKB", "id": "Q95SX8", "url": "https://www.uniprot.org/uniprotkb/Q95SX8" } ], "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": "Q95SX8", "url": "https://www.uniprot.org/uniprotkb/Q95SX8" } ], "pmid": "" }, { "name": "protein N-terminal-methionine acetyltransferase activity", "id": "GO:0120518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120518", "evidence": [ { "database": "UniProtKB", "id": "Q95SX8", "url": "https://www.uniprot.org/uniprotkb/Q95SX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q95T10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95T10", "url": "https://www.uniprot.org/uniprotkb/Q95T10" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 421, "chemical_mass": 49248.0, "gene_names": "CG3631;Dmel\\CG3631", "protein_name": "Glycosaminoglycan xylosylkinase homolog", "disease": [], "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": "Q95T10", "url": "https://www.uniprot.org/uniprotkb/Q95T10" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": 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characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 }, { "disease_id": "DOID:9428", "name": "intracranial hypertension", "description": "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.", "url": "https://disease-ontology.org/term/DOID:9428", "evidence": [ { "id": "9428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9428" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "biological_process": [ { "name": "renal water homeostasis", "id": "GO:0003091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003091", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "chemical homeostasis", "id": "GO:0048878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048878", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" } ], "molecular_function": [ { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q9V5Z7", "url": "https://www.uniprot.org/uniprotkb/Q9V5Z7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9W1X9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 257, "chemical_mass": 28621.0, "gene_names": "asrij;Asrij;CG13533;Dmasrij;Dmel\\CG13533;Dmel_CG13533;FBgn 34793;arj;asrij", "protein_name": "OCIA domain-containing protein 1", "disease": [], "biological_process": [ { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "regulation of antibacterial peptide production", "id": "GO:0002786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002786", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "lymph gland crystal cell differentiation", "id": "GO:0035170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035170", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9W1X9", "url": "https://www.uniprot.org/uniprotkb/Q9W1X9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V727-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V727", "url": "https://www.uniprot.org/uniprotkb/Q9V727" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1669, "chemical_mass": 179842.0, "gene_names": "Asx;ASX;Asx;CG8787;Dmel\\CG8787;Dmel_CG8787;FBgn0261823;xen", "protein_name": "Polycomb group protein Asx", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080893", "name": "Bainbridge-Ropers syndrome", "description": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12.", "url": "https://disease-ontology.org/term/DOID:0080893", "evidence": [ { "id": "0080893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080893" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9V727", "url": "https://www.uniprot.org/uniprotkb/Q9V727" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9V727", "url": "https://www.uniprot.org/uniprotkb/Q9V727" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1215, "chemical_mass": 139279.0, "gene_names": "bgcn;BGCN;Bgcn;CG10330;CG10331;CG30170;Dmel\\CG30170;Dmel_CG30170;PNBP;b(2)cgn;b(2)gcn;bcgn;ben(2)gcn;bgcn;cg10331;fs(2)eo-C;fs(2)eo6;fs(2)eoQS2;gcn;pep", "protein_name": "Protein benign gonial cell neoplasm", "disease": [], "molecular_function": [ { "name": "mRNA regulatory element binding translation repressor activity", "id": "GO:0000900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000900", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "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": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "cystoblast division", "id": "GO:0007282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007282", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" }, { "name": "male germline stem cell symmetric division", "id": "GO:0098730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098730", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W1I2-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Thr898", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9W1I2", "url": "https://www.uniprot.org/uniprotkb/Q9W1I2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9W1I2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9W1I2" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VHV5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 186, "chemical_mass": 21254.0, "gene_names": "Arl8;Arl8;BcDNA:LD29185;CG7891;Dmel\\CG7891;Dmel_CG7891;Gie;Q9VHV5;arl8", "protein_name": "ADP-ribosylation factor-like protein 8", "disease": [], "biological_process": [ { "name": "presynapse assembly", "id": "GO:0099054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099054", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "late endosome to lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "sister chromatid segregation", "id": "GO:0000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000819", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "establishment of localization in cell", "id": "GO:0051649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "spindle midzone", "id": "GO:0051233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051233", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" }, { "name": "S bouton", "id": "GO:1990027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990027", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VHV5-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Thr34", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Probably constitutively inactive (GDP-locked form). Abolishes interaction with CG11448.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" }, { "database": "PubMed", "id": "30115618", "url": "https://glygen.org/publication/PubMed/30115618" } ] } ] }, { "uniprot_canonical_ac": "Q9VHV5-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Gln75", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Probably constitutively active (GTP-locked form). Does not affect interaction with CG11448.", "evidence": [ { "database": "UniProtKB", "id": "Q9VHV5", "url": "https://www.uniprot.org/uniprotkb/Q9VHV5" }, { "database": "PubMed", "id": "30115618", "url": "https://glygen.org/publication/PubMed/30115618" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V877-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 628, "chemical_mass": 71387.0, "gene_names": "sub;B;CG12298;DmKlp54E;DmSub;Dmel\\CG12298;Dmel_CG12298;Dub;KIF 20A;KIF20A/B;MKLP2;MKlp2;Mklp2;SUB;Subito;Sub;mei-1794;sub", "protein_name": "Kinesin-like protein subito", "disease": [ { "disease_id": "DOID:0061025", "name": "familial restrictive cardiomyopathy 6", "description": "A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0061025", "evidence": [ { "id": "0061025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061025" } ], "weight": 0.0 } ], "biological_process": [ { "name": "female meiosis chromosome segregation", "id": "GO:0016321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016321", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "embryonic cleavage", "id": "GO:0040016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040016", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "microtubule nucleation", "id": "GO:0007020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007020", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q9V877", "url": "https://www.uniprot.org/uniprotkb/Q9V877" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" }, { "name": "photoreceptor cell axon guidance", "id": "GO:0072499", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9NHV9", "url": "https://www.uniprot.org/uniprotkb/Q9NHV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VYY2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYY2", "url": "https://www.uniprot.org/uniprotkb/Q9VYY2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 22216.0, "gene_names": "Spase25;CG1571;CG1751;Dmel\\CG1751;Dmel_CG1751;Spase25", "protein_name": "Signal peptidase 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"https://www.uniprot.org/uniprotkb/Q9VQH2" } ], "pmid": "" }, { "name": "mucosal immune response", "id": "GO:0002385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002385", "evidence": [ { "database": "UniProtKB", "id": "Q9VQH2", "url": "https://www.uniprot.org/uniprotkb/Q9VQH2" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "Q9VQH2", "url": "https://www.uniprot.org/uniprotkb/Q9VQH2" } ], "pmid": "" }, { "name": "adult chitin-based cuticle development", "id": "GO:0008365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008365", "evidence": [ { "database": "UniProtKB", "id": "Q9VQH2", "url": "https://www.uniprot.org/uniprotkb/Q9VQH2" } ], "pmid": "" }, { "name": "adult chitin-containing cuticle pigmentation", "id": "GO:0048085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048085", "evidence": [ { "database": "UniProtKB", "id": "Q9VQH2", "url": 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Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.", "url": "https://disease-ontology.org/term/DOID:1508", "evidence": [ { "id": "1508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1508" } ], "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:1926", "name": "Gaucher's disease", "description": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.", "url": "https://disease-ontology.org/term/DOID:1926", "evidence": [ { "id": "1926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1926" } ], "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: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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9360", "name": "intrinsic asthma", "description": "A chronic asthma that is triggered by factors not attributable to allergies.", "url": "https://disease-ontology.org/term/DOID:9360", "evidence": [ { "id": "9360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9360" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "negative regulation of dopamine metabolic process", "id": "GO:0045963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045963", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "mating behavior, sex discrimination", "id": "GO:0048047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048047", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "regulation of neuromuscular synaptic transmission", "id": "GO:1900073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900073", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "BLOC-1 complex", "id": "GO:0031083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031083", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "neuromuscular junction of somatic muscle", "id": "GO:0098527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098527", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT5", "url": "https://www.uniprot.org/uniprotkb/Q9VVT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9XZS8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 613, "chemical_mass": 65161.0, "gene_names": "Atf3;A3-3;ATF3;Atf3;CG11405;DM11;Dmel\\CG11405;Dmel_CG11405;EG:33C11.1;atf3;dATF3", "protein_name": "Activating transcription factor 3", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", 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region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "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": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9XZS8", "url": "https://www.uniprot.org/uniprotkb/Q9XZS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VA91-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VA91", "url": "https://www.uniprot.org/uniprotkb/Q9VA91" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 194, "chemical_mass": 22170.0, "gene_names": "RpS7;CG1883;Dmel\\CG1883;Dmel_CG1883;RpS7;S7e", "protein_name": "Small ribosomal subunit protein eS7", "disease": [ { "disease_id": "DOID:0111881", "name": "Diamond-Blackfan anemia 8", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous 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"record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VLK4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLK4", "url": "https://www.uniprot.org/uniprotkb/Q9VLK4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 116, "chemical_mass": 12622.0, "gene_names": "Dh31;CG13094;DH 31;DH-II;DH31;DH[31];DH[[31]];DH[[31];Dh31;Dh[[31]];Dmel\\CG13094;Dmel_CG13094;Drm-DH[[31]];Drome-DH[[31]];anon-EST:Posey114;anon-WO02059370.45;dh31;drome-DH31", "protein_name": "Diuretic hormone class 2", "disease": [], "biological_process": [ { "name": "negative regulation of feeding behavior", "id": "GO:2000252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000252", "evidence": [ { "database": "UniProtKB", "id": "Q9VLK4", "url": "https://www.uniprot.org/uniprotkb/Q9VLK4" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": 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"batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9NIV2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9NIV2", "url": "https://www.uniprot.org/uniprotkb/Q9NIV2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 172, "chemical_mass": 19529.0, "gene_names": "Ste12DOR;CG32616;Dmel\\CG32616;SC-1;Ste12DOR;SteDOR;Ste", "protein_name": "Stellate orphon protein at 12D", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9NIV2", "url": "https://www.uniprot.org/uniprotkb/Q9NIV2" } ], "pmid": "" }, { "name": "protein kinase CK2 complex", "id": "GO:0005956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005956", "evidence": [ { "database": "UniProtKB", "id": "Q9NIV2", "url": 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"https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.", "url": "https://disease-ontology.org/term/DOID:3314", "evidence": [ { "id": "3314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ], "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: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: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: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:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "8-oxo-7,8-dihydroguanine DNA N-glycosylase activity", "id": "GO:0034039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034039", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "DNA N-glycosylase activity", "id": "GO:0019104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019104", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "class I DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0140078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140078", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" } ], "biological_process": [ { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" }, { "name": "base-excision repair, AP site formation", "id": "GO:0006285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006285", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I8", "url": "https://www.uniprot.org/uniprotkb/Q9V3I8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V3I9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 438, "chemical_mass": 49515.0, "gene_names": "BG:DS07851.5;BG:DS07851.5;CG15262;Dmel\\CG15262;Dmel_CG15262", "protein_name": "NOT2/NOT3/NOT5 C-terminal domain-containing protein", "disease": [], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" }, { "name": "regulation of stem cell population maintenance", "id": "GO:2000036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000036", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" } ], "cellular_component": [ { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" }, { "name": "CCR4-NOT core complex", "id": "GO:0030015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030015", "evidence": [ { "database": "UniProtKB", "id": "Q9V3I9", "url": "https://www.uniprot.org/uniprotkb/Q9V3I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V3L6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 154, "chemical_mass": 17719.0, "gene_names": "Cbp20;CBP20;CG12357;Cbp20;Dmel\\CG12357;cbp20", "protein_name": "Nuclear cap-binding protein subunit 2", "disease": [ { "disease_id": "DOID:0060419", "name": "chromosome 3q29 microdeletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.", "url": "https://disease-ontology.org/term/DOID:0060419", "evidence": [ { "id": "0060419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060419" } ], "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": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "RNA cap binding", "id": "GO:0000339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000339", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "nuclear cap binding complex", "id": "GO:0005846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005846", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "siRNA processing", "id": "GO:0030422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030422", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "primary miRNA processing", "id": "GO:0031053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031053", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" }, { "name": "mRNA cis splicing, via spliceosome", "id": "GO:0045292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045292", "evidence": [ { "database": "UniProtKB", "id": "Q9V3L6", "url": "https://www.uniprot.org/uniprotkb/Q9V3L6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V3N1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprotkb/Q9V3N1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 447, "chemical_mass": 49795.0, "gene_names": "Spn27A;CG11331;Dm-Spn27A;Dmel\\CG11331;EST1;Sp27A;Spn27A;Spn27a;Spn27;sp27A;spn27A", "protein_name": "Serine protease inhibitor 27A", "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:0060601", "name": "alpha-2-plasmin inhibitor deficiency", "description": "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes.", "url": "https://disease-ontology.org/term/DOID:0060601", "evidence": [ { "id": "0060601", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060601" } ], "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:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080939", "name": "hereditary angioedema type I", "description": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.", "url": "https://disease-ontology.org/term/DOID:0080939", "evidence": [ { "id": "0080939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080939" } ], "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: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:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "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:1558", "name": "angioedema", "description": "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.", "url": "https://disease-ontology.org/term/DOID:1558", "evidence": [ { "id": "1558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1558" } ], "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: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: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: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: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "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": "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": "Q9V3N1", "url": "https://www.uniprot.org/uniprotkb/Q9V3N1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprotkb/Q9V3N1" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { 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{ "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "NAD-cap decapping", "id": "GO:0110155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110155", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "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": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": 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"UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" } ], "molecular_function": [ { "name": "piRNA cluster binding", "id": "GO:1990470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990470", "evidence": [ { "database": "UniProtKB", "id": "Q9V629", "url": "https://www.uniprot.org/uniprotkb/Q9V629" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V668-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 68, "chemical_mass": 7564.0, "gene_names": "SEC61G1;BcDNA:GM14157;CG8860;Dmel\\CG8860", "protein_name": "Protein transport protein Sec61 gamma-1 subunit", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Sec61 translocon complex", "id": "GO:0005784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005784", "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "pmid": "" }, { "name": "Ssh1 translocon complex", "id": "GO:0071261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071261", "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "pmid": "" } ], "biological_process": [ { "name": "post-translational protein targeting to membrane, translocation", "id": "GO:0031204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031204", "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "pmid": "" }, { "name": "SRP-dependent cotranslational protein targeting to membrane, translocation", "id": "GO:0006616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006616", "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "Q9V668", "url": "https://www.uniprot.org/uniprotkb/Q9V668" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V675-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 519, "chemical_mass": 59608.0, "gene_names": "Cyp6g2;6g2;CG8859;Cyp6G2;Cyp6g2;Dmel\\CG8859;cyp6g2", "protein_name": "Probable cytochrome P450 6g2", "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: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:0080630", "name": "B-lymphoblastic 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"evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" }, { "name": "methyl farnesoate epoxidase activity", "id": "GO:0120511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120511", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" }, { "name": "farnesoate epoxidase activity", "id": "GO:0120512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120512", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" } ], "biological_process": [ { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" }, { "name": "response to DDT", "id": "GO:0046680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046680", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" }, { "name": "insecticide catabolic process", "id": "GO:0046701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046701", "evidence": [ { "database": "UniProtKB", "id": "Q9V675", "url": "https://www.uniprot.org/uniprotkb/Q9V675" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V6D6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 553, "chemical_mass": 62825.0, "gene_names": "Cyp301a1;301a1;CG8587;Cyp301A1;Cyp301a1;Dmel\\CG8587;cutl", "protein_name": "Probable cytochrome P450 301a1, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal 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"weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by 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or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" } ], "biological_process": [ { "name": "tergite morphogenesis", "id": "GO:0007490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007490", "evidence": [ { "database": "UniProtKB", "id": "Q9V6D6", "url": "https://www.uniprot.org/uniprotkb/Q9V6D6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V6D6-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "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": 147, "start_aa": "Thr", "end_pos": 147, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr147", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V6L9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 255, "chemical_mass": 28832.0, "gene_names": "Fsn;BEST:GH20696;CG4643;DFsn;Dmel\\CG4643;FBXO2;FSN;Fsn;Wals;dFsn;fsn", "protein_name": "F-box/SPRY domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "pole plasm", "id": "GO:0045495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045495", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "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": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "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": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "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": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" }, { "name": "synapse assembly involved in innervation", "id": "GO:0060386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060386", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "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": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V6L9-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Tyr239", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes interaction with vas.", "evidence": [ { "database": "UniProtKB", "id": "Q9V6L9", "url": "https://www.uniprot.org/uniprotkb/Q9V6L9" }, { "database": "PubMed", "id": "20123973", "url": "https://glygen.org/publication/PubMed/20123973" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V6Q2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V6Q2", "url": "https://www.uniprot.org/uniprotkb/Q9V6Q2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 225, "chemical_mass": 25968.0, "gene_names": "cid;BcDNA:RE21270;CENH3;CENP-A/CID;CENP-A/Cid;CENP-A/Cnp1;CENP-A;CENPA;CG13329;CID/CENP-A;CID;CenH3[CID];CenH3[Cid];CenH3;Cenp-A;CenpA/CID;CenpA;Cid[Mel];Cid;Dmel\\CG13329;cenH3;cenp-a;cenpA;cid;dCENP-A;dCenpA", "protein_name": "Histone H3-like 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"https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V8M2", "url": "https://www.uniprot.org/uniprotkb/Q9V8M2" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V8M2", "url": "https://www.uniprot.org/uniprotkb/Q9V8M2" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V8M2", "url": "https://www.uniprot.org/uniprotkb/Q9V8M2" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V8M2", "url": "https://www.uniprot.org/uniprotkb/Q9V8M2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9V8M2", "url": "https://www.uniprot.org/uniprotkb/Q9V8M2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V9P3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 40580.0, "gene_names": "ttm3;CG6691;Dmel\\CG6691;ttm3", "protein_name": "Mitochondrial import inner membrane translocase subunit TIM50-A", "disease": [ { "disease_id": "DOID:0070002", "name": "3-methylglutaconic aciduria type 9", "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0070002", "evidence": [ { "id": "0070002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070002" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "TIM23 mitochondrial import inner membrane translocase complex", "id": "GO:0005744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005744", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" }, { "name": "mitochondrial membrane organization", "id": "GO:0007006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007006", "evidence": [ { "database": "UniProtKB", "id": "Q9V9P3", "url": "https://www.uniprot.org/uniprotkb/Q9V9P3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9V9U4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9U4", "url": "https://www.uniprot.org/uniprotkb/Q9V9U4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 302, "chemical_mass": 33564.0, "gene_names": "nero;CG2245;DOHH;Dmel\\CG2245;l(3)s1921;nero", "protein_name": "Deoxyhypusine hydroxylase", "disease": [ { "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": 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VA00-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Thr464", "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": 464, "start_aa": "Thr", "end_pos": 464, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr464", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VA00-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Ser312", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VA00", "url": 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disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection.", "url": "https://disease-ontology.org/term/DOID:646", "evidence": [ { "id": "646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:646" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate biosynthetic process", "id": "GO:0036092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036092", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "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": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "late endosome to vacuole transport", "id": "GO:0045324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045324", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": "GO:0035096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035096", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase binding", "id": "GO:0043548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043548", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" } ], "cellular_component": [ { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III, type I", "id": "GO:0034271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034271", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase complex, class III, type II", "id": "GO:0034272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034272", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE1", "url": "https://www.uniprot.org/uniprotkb/Q9VCE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VCE6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 608, "chemical_mass": 68101.0, "gene_names": "Mettl3;CG5933;Dm ime4;Dmel\\CG5933;IME4;Ime4;METTL3;MTA70;Mettl3;Mta70;dIME4;ime4;mettl3", "protein_name": "N(6)-adenosine-methyltransferase MT-A70-like protein", "disease": [ { "disease_id": "DOID:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sex determination", "id": "GO:0007530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "mRNA modification", "id": "GO:0016556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016556", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "RNA methylation", "id": "GO:0001510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001510", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "female sex determination", "id": "GO:0030237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030237", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "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": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "dosage compensation by hyperactivation of X chromosome", "id": "GO:0009047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009047", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "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": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA m(6)A methyltransferase activity", "id": "GO:0001734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001734", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" } ], "cellular_component": [ { "name": "RNA N6-methyladenosine methyltransferase complex", "id": "GO:0036396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036396", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VCE6-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Asp413", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Severe lethality; when associated with A-416.", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" }, { "database": "PubMed", "id": "21873203", "url": "https://glygen.org/publication/PubMed/21873203" } ] } ] }, { "uniprot_canonical_ac": "Q9VCE6-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Trp416", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Severe lethality; when associated with A-413.", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE6", "url": "https://www.uniprot.org/uniprotkb/Q9VCE6" }, { "database": "PubMed", "id": "21873203", "url": "https://glygen.org/publication/PubMed/21873203" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VCI0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 211, "chemical_mass": 24298.0, "gene_names": "Rex2;CG10214;Dmel\\CG10214;Rex2", "protein_name": "RNA exonuclease 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" } ], "biological_process": [ { "name": "nucleobase-containing compound metabolic process", "id": "GO:0006139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006139", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI0", "url": "https://www.uniprot.org/uniprotkb/Q9VCI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VCI5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCI5", "url": "https://www.uniprot.org/uniprotkb/Q9VCI5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 19300.0, "gene_names": "SdhD;BEST:GH27735;CG10219;DHSD;Dmel\\CG10219;SdhD;Sdhd", "protein_name": "Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial", "disease": [ { "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. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. 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"id": "Q9VCP0", "url": "https://www.uniprot.org/uniprotkb/Q9VCP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VCP0-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VCP0", "url": "https://www.uniprot.org/uniprotkb/Q9VCP0" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VCP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VCP0" } ] } ] }, { "uniprot_canonical_ac": "Q9VCP0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9VCP0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VCP0" }, { "database": 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"id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "DNA endoreduplication", "id": "GO:0042023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042023", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "premeiotic DNA replication", "id": "GO:0006279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006279", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA replication origin binding", "id": "GO:0003688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003688", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "MCM complex", "id": "GO:0042555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042555", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" }, { "name": "CMG complex", "id": "GO:0071162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071162", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VGW6-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Lys384", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Greatly reduces complex helicase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW6", "url": "https://www.uniprot.org/uniprotkb/Q9VGW6" }, { "database": "PubMed", "id": "20122406", "url": "https://glygen.org/publication/PubMed/20122406" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VGZ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ0", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 522, "chemical_mass": 59684.0, "gene_names": "Cyp12e1;12e1;CG14680;Cyp12E1;Cyp12e1;Cyp12e;Dmel\\CG14680", "protein_name": "Probable cytochrome P450 12e1, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ0", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ0", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ0" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": 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"cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "NAD+ 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[], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VH90-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 778, "chemical_mass": 88199.0, "gene_names": "trbd;CG9448;Dmel\\CG9448;Q9VH90;Trabid;Trbd;dTrbd;trbd", "protein_name": "Ubiquitin thioesterase trabid", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": 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"Thr", "end_pos": 68, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr68", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Ser770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Ser771", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ser775", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VHF2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHF2", "url": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 320, "chemical_mass": 34421.0, "gene_names": "ATP6AP2;ATP6AP2;CG8444;Dmel\\CG8444;VhaM8-9;VhaM8.9;VhaPRR;dPRR;vhaM8.9", "protein_name": "ATPase H(+)-transporting accessory protein 2", "disease": [ { "disease_id": "DOID:0051048", "name": "congenital disorder of glycosylation type IIr", "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0051048", "evidence": [ { "id": "0051048", "database": "AGR", "url": 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variety of tissue proteins and/or lipids.", "url": "https://disease-ontology.org/term/DOID:5212", "evidence": [ { "id": "5212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ], "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": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex assembly", "id": "GO:0070072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070072", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of planar 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 823, "chemical_mass": 91837.0, "gene_names": "Sirt1;BEST:LD38188;CG5216;D.mel1;DSir2;Dmel\\CG5216;SIR-2;SIR2;SIRT1;Sir2L;Sir2;Sirt1/dSir2;Sirt1;dSIR2;dSir2;dmSRT406;dsir2;l(2)05326;sir2;sirt1", "protein_name": "NAD-dependent histone deacetylase sirtuin-1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens 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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": "lateral inhibition", "id": "GO:0046331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046331", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "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": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of response to ethanol", "id": "GO:1901416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901416", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H4K16 deacetylase activity, NAD-dependent", "id": "GO:0046970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046970", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "histone deacetylase activity, NAD-dependent", "id": "GO:0017136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017136", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "histone H3K14 deacetylase activity, NAD-dependent", "id": "GO:0032041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032041", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, NAD-dependent", "id": "GO:0046969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046969", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "histone H4K deacetylase activity", "id": "GO:0141051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141051", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "rDNA heterochromatin", "id": "GO:0033553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033553", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": 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2N", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0110177", "evidence": [ { "id": "0110177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110177" } ], "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. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM8", "url": "https://www.uniprot.org/uniprotkb/Q9VLM8" } ], "pmid": "" } ], "biological_process": [ { "name": "alanyl-tRNA aminoacylation", "id": "GO:0006419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006419", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM8", "url": "https://www.uniprot.org/uniprotkb/Q9VLM8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VLP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLP4", "url": "https://www.uniprot.org/uniprotkb/Q9VLP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 649, "chemical_mass": 73680.0, "gene_names": "mtsh;CG7795;Dmel\\CG7795;mtsh", "protein_name": "Protein mitoshell", "disease": [], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP4", "url": "https://www.uniprot.org/uniprotkb/Q9VLP4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP4", "url": "https://www.uniprot.org/uniprotkb/Q9VLP4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP4", "url": "https://www.uniprot.org/uniprotkb/Q9VLP4" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP4", "url": "https://www.uniprot.org/uniprotkb/Q9VLP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VLQ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 37081.0, "gene_names": "wol;ALG5;Alg5;CG7870;Dmel\\CG7870;Wol;alg5;dAlg5;wol", "protein_name": "Dolichyl-phosphate beta-glucosyltransferase", "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:0060952", "name": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "mesoderm migration involved in gastrulation", "id": "GO:0007509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007509", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "dolichyl-phosphate beta-glucosyltransferase activity", "id": "GO:0004581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004581", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLQ1-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Arg209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Fails to rescue glycosylation and growth phenotypes in yeast.", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" }, { "database": "PubMed", "id": "18403407", "url": "https://glygen.org/publication/PubMed/18403407" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VLU5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU5", "url": "https://www.uniprot.org/uniprotkb/Q9VLU5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 409, "chemical_mass": 46511.0, "gene_names": "Wwox;CG7221;DmWWOX;Dmel\\CG7221;Dmel_CG7221;WWOX;Wwox;anon-EST:Posey177", "protein_name": "WW domain-containing oxidoreductase", "disease": [ { "disease_id": "DOID:0080060", "name": "autosomal recessive spinocerebellar ataxia 12", "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, 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], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNG0-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "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": 71, "start_aa": "Thr", "end_pos": 71, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr71", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VNG1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNG1", "url": "https://www.uniprot.org/uniprotkb/Q9VNG1" } ], "common_name": "Fruit fly", "glygen_name": 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"" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR25", "url": "https://www.uniprot.org/uniprotkb/Q9VR25" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9VR25", "url": "https://www.uniprot.org/uniprotkb/Q9VR25" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VR56-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR56", "url": "https://www.uniprot.org/uniprotkb/Q9VR56" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 36442.0, "gene_names": 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[7227]" } ], "length": 1012, "chemical_mass": 113104.0, "gene_names": "AlaRS-m;Aats-ala-m;AlaRS-m;AlaS;CG4633;Dm mt AlaRS;Dmel\\CG4633;alaS", "protein_name": "Alanine--tRNA ligase, mitochondrial", "disease": [ { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0070396", "name": "progressive leukoencephalopathy with ovarian failure", "description": "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0070396", "evidence": [ { "id": "0070396", "database": "AGR", "url": 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"GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": 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"Q9VTI8-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Thr80", "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": 80, "start_aa": "Thr", "end_pos": 80, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr80", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VTM5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTM5", "url": "https://www.uniprot.org/uniprotkb/Q9VTM5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VU41", "url": "https://www.uniprot.org/uniprotkb/Q9VU41" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 451, "chemical_mass": 51634.0, "gene_names": "Zmynd10;CG11253;Dmel\\CG11253;Zmynd10", "protein_name": "Zinc finger MYND domain-containing protein 10 homolog", "disease": [ { "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:0110597", "name": "primary ciliary dyskinesia 22", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, 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"https://www.uniprot.org/uniprotkb/Q9VVI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VVI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VVI2" } ] } ] }, { "uniprot_canonical_ac": "Q9VVI2-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Thr188", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VVI2", "url": "https://www.uniprot.org/uniprotkb/Q9VVI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VVI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VVI2" } ] } ] }, { "uniprot_canonical_ac": "Q9VVI2-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Gln25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Strongly reduced 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No effect on P-body targeting.", "evidence": [ { "database": "UniProtKB", "id": "Q9VVI2", "url": "https://www.uniprot.org/uniprotkb/Q9VVI2" }, { "database": "PubMed", "id": "17923697", "url": "https://glygen.org/publication/PubMed/17923697" } ] } ] }, { "uniprot_canonical_ac": "Q9VVI2-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Phe345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly reduced interaction with DDX6.", "evidence": [ { "database": "UniProtKB", "id": "Q9VVI2", "url": "https://www.uniprot.org/uniprotkb/Q9VVI2" }, { "database": "PubMed", "id": "19285948", "url": "https://glygen.org/publication/PubMed/19285948" } ] } ] }, { "uniprot_canonical_ac": "Q9VVI2-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Phe347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Minor effect on interaction with DDX6.", "evidence": [ { "database": "UniProtKB", "id": "Q9VVI2", "url": 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"mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL6", "url": "https://www.uniprot.org/uniprotkb/Q9VVL6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL6", "url": "https://www.uniprot.org/uniprotkb/Q9VVL6" } ], "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": "Q9VVL6", "url": "https://www.uniprot.org/uniprotkb/Q9VVL6" } ], "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": "Q9VVL6", "url": 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"site_lbl": "Thr157", "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": 157, "start_aa": "Thr", "end_pos": 157, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr157", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VVR4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVR4", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 461, "chemical_mass": 52856.0, "gene_names": "GNBP2;CG4144;DGNBP-2;Dmel\\CG4144;GNBP2;GNBP;gnbp2", "protein_name": "Gram-negative bacteria-binding protein 2", "disease": [], "biological_process": [ { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR4", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR4", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9VVR4", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4" } ], "pmid": "" }, { "name": "innate immune response-activating signaling pathway", "id": "GO:0002758", 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"site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q9VVR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VVU5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 525, "chemical_mass": 58215.0, "gene_names": "CSN1b;CG3889;CH1-2;CSN1B;CSN1b;CSN1;Csn1B;Csn1b;DCH1-2;Dch1-2;Dch1;Dmel\\CG3889;csn1b;csn1;dCSN1", "protein_name": "COP9 signalosome complex subunit 1b", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" }, { "name": "male germ-line cyst encapsulation", "id": "GO:0048140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048140", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" }, { "name": "germarium-derived cystoblast division", "id": "GO:0048142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048142", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" }, { "name": "regulation of protein neddylation", "id": "GO:2000434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000434", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "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": "Q9VVU5", "url": "https://www.uniprot.org/uniprotkb/Q9VVU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": 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"record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VWI4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 211, "chemical_mass": 24623.0, "gene_names": "narya;CG12200;Dmel\\CG12200;Narya;narya", "protein_name": "RING finger protein narya", "disease": [ { "disease_id": "DOID:0111910", "name": "spermatogenic failure", "description": "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa.", "url": "https://disease-ontology.org/term/DOID:0111910", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ], "weight": 0.0 }, { "disease_id": "DOID:0112351", "name": "spermatogenic failure 62", "description": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0112351", "evidence": [ { "id": "0112351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112351" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" }, { "name": "SUMO transferase activity", "id": "GO:0019789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019789", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" } ], "cellular_component": [ { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" } ], "biological_process": [ { "name": "homologous chromosome pairing at meiosis", "id": "GO:0007129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007129", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" }, { "name": "positive regulation of meiotic DNA double-strand break formation", "id": "GO:1903343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903343", "evidence": [ { "database": "UniProtKB", "id": "Q9VWI4", "url": "https://www.uniprot.org/uniprotkb/Q9VWI4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.2" }, { "uniprot_canonical_ac": "Q9VWR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 574, "chemical_mass": 65177.0, "gene_names": "phtm;306a1;CG6578;CYP306A1;Cyp306a1-Dm;Cyp306a1;Dmel\\CG6578;Dmel_CG6578;Phm;exo;phm;phtm;ptm", "protein_name": "Cytochrome P450 306a1", "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:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "steroid hydroxylase activity", "id": "GO:0008395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008395", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "ecdysteroid 25-hydroxylase activity", "id": "GO:0035302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035302", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" } ], 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"gene_names": "Uba5;CG1749;Dmel\\CG1749;MoeB;Uba5;dMoaD;dUBA5", "protein_name": "Ubiquitin-like modifier-activating enzyme 5", "disease": [ { "disease_id": "DOID:0050709", "name": "early infantile epileptic encephalopathy", "description": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.", "url": "https://disease-ontology.org/term/DOID:0050709", "evidence": [ { "id": "0050709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050709" } ], "weight": 0.0 }, { "disease_id": "DOID:0080424", "name": "developmental and epileptic encephalopathy 44", "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.", "url": 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"database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A0B4KFD1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFD1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFD1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 4752, "chemical_mass": 530554.0, "gene_names": "LRP1;CG30368;CG33087;CG8706;CT9297;Dm CG33087;Dmel\\CG33087;Dmel_CG33087;LRP-1;LRP1;Lrp1;dmLRP1;lrp1", "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": 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"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: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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease 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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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of lipid transport", "id": "GO:0032368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032368", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFD1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFD1" } ], "pmid": "" }, { "name": "regulation of axon guidance", "id": "GO:1902667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902667", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFD1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFD1" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFD1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFD1" } ], "pmid": "" }, { "name": "positive regulation of reverse cholesterol transport", "id": "GO:1903064", "url": 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"protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A0C4DHF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF6", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1262, "chemical_mass": 137703.0, "gene_names": "Dg;CG18250;CT41273;DG;Dg;DmDG;Dmel\\CG18250;Dmel_CG18250;alpha-DG;atu;dgn;dg;dys", "protein_name": "Dystroglycan 1", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": 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"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:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "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:11206", "name": "opioid abuse", "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:11206", "evidence": [ { "id": "11206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11206" } ], "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: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "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:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": 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defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "somatostatin receptor activity", "id": "GO:0004994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004994", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuropeptide receptor activity", "id": "GO:0008188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008188", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "allatostatin receptor activity", "id": "GO:0008261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008261", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "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": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A0S0WNY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WNY8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WNY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 539, "chemical_mass": 61157.0, "gene_names": "nAChRalpha4;CG12414;CG17552;Dalpha4;Dmel\\CG12414;Dmel_CG12414;alpha4;anon-WO0138359.1;nAChR-alpha80B;nAChRa4;nAChRalpha4;nAChR;nAcRalpha-4;nAcRalpha-80B;nAcRalpha-80;nAcRaplha-80B;redeye;rye", "protein_name": "", "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:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A126GUV7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A126GUV7", "url": "https://www.uniprot.org/uniprotkb/A0A126GUV7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 707, "chemical_mass": 77951.0, "gene_names": "fray;4624;CG7693;Dmel\\CG7693;Dmel_CG7693;Dosr1;Fray;SPAK;STE20-like/SPAK;dOSR1;dSTRAD;fray;l(3)07551;lag", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0050450", "name": "Gitelman syndrome", "description": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing 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"sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A1Z1CH01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH01", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 15, "chemical_mass": 1858.0, "gene_names": "CG1461-5'utr;CG1461-5'utr;CG46317;Dmel\\CG46317;Dmel_CG46317", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A1Z1CH02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH02", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 19, 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"https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 312, "chemical_mass": 35214.0, "gene_names": "PIG-C;CG12077;Dmel\\CG12077;Dmel_CG12077;PIG-C;PIGC", "protein_name": "", "disease": [ { "disease_id": "DOID:0081223", "name": "glycosylphosphatidylinositol biosynthesis defect 16", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0081223", "evidence": [ { "id": "0081223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081223" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex", "id": "GO:0000506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000506", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045313", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1Z905-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z905", "url": "https://www.uniprot.org/uniprotkb/A1Z905" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 130, "chemical_mass": 13175.0, "gene_names": "NEST:bs09a11;CG30334;Dmel\\CG30334;Dmel_CG30334;NEST:bs09a11", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A0A499GGQ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 837, "chemical_mass": 94859.0, "gene_names": "nAChRalpha5;AChRalpha5;BG:DS05899.4;BG:DS05899.5;CG16878;CG32975;CG4498;CT14633;Dalpha5;Dmel\\CG32975;Dmel_CG32975;Nic 34E;anon-WO02059370.44;da5;daf;lincRNA.128;lincRNA.S1055;nAChRalpha-34E;nAChRalpha5;nAChR;nAcR-alpha-34E;nAcRalpha-34E;nAcRalpha-34e", "protein_name": "", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine binding", "id": "GO:0042166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042166", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005231", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": 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} ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAD5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAD5", "url": "https://www.uniprot.org/uniprotkb/A1ZAD5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 217, "chemical_mass": 24841.0, "gene_names": "Dmel\\CG30099;CG30099;CG7750;Dmel\\CG30099;Dmel_CG30099", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAD5-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "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": 44, "start_aa": "Thr", "end_pos": 44, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr44", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "A1ZAD5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A1ZAD5" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAG9", "url": "https://www.uniprot.org/uniprotkb/A1ZAG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 284, "chemical_mass": 32103.0, "gene_names": "HDC06756;CG33459;Dmel\\CG33459;Dmel_CG33459;HDC06756;SP238", "protein_name": "Peptidase S1 domain-containing protein", "disease": [ { "disease_id": "DOID:0060835", "name": "isolated microphthalmia 6", "description": "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060835", "evidence": [ { "id": "0060835", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060835" } ], "weight": 0.0 }, { "disease_id": "DOID:0080634", "name": "nanophthalmos", "description": "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.", "url": "https://disease-ontology.org/term/DOID:0080634", "evidence": [ { "id": "0080634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080634" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual 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} ] }, { "uniprot_canonical_ac": "A1ZAG9-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Thr83", "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": 83, "start_aa": "Thr", "end_pos": 83, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr83", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAL5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 42983.0, "gene_names": "Dmel\\CG6472;CG6472;Dmel\\CG6472;Dmel_CG6472", "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": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAM7", "url": "https://www.uniprot.org/uniprotkb/A1ZAM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 447, "chemical_mass": 51057.0, "gene_names": "ste24b;CG9001;Dmel\\CG9001;Dmel\\Ste24b;Dmel\\Ste24;Dmel_CG9001;ste24b", "protein_name": "CAAX prenyl protease", "disease": [ { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0060762", "name": "restrictive dermopathy", "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.", "url": "https://disease-ontology.org/term/DOID:0060762", "evidence": [ { "id": "0060762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060762" } ], "weight": 0.0 }, { "disease_id": "DOID:0070369", "name": "restrictive dermopathy 1", "description": "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.", "url": "https://disease-ontology.org/term/DOID:0070369", "evidence": [ { "id": "0070369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070369" } ], "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:0081129", "name": "mandibuloacral dysplasia type B lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.", "url": "https://disease-ontology.org/term/DOID:0081129", "evidence": [ { "id": "0081129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081129" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "CAAX-box protein processing", "id": "GO:0071586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071586", "evidence": [ { "database": "UniProtKB", "id": "A1ZAM7", "url": "https://www.uniprot.org/uniprotkb/A1ZAM7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": 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"sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAR6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 586, "chemical_mass": 67198.0, "gene_names": "Dmel\\CG10950;CG10950;Dmel\\CG10950;Dmel_CG10950", "protein_name": "Exportin-1/Importin-beta-like domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A1ZAX8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprotkb/A1ZAX8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 858, "chemical_mass": 97010.0, "gene_names": "HPS4;CG4966;Dmel\\CG4966;Dmel_CG4966;HPS4;NP_725707;dHPS4", "protein_name": "", "disease": [ { "disease_id": "DOID:0060542", "name": "Hermansky-Pudlak syndrome 4", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.", "url": "https://disease-ontology.org/term/DOID:0060542", "evidence": [ { "id": "0060542", "database": 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"record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A8DYM4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYM4", "url": "https://www.uniprot.org/uniprotkb/A8DYM4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 61, "chemical_mass": 6970.0, "gene_names": "CG13513;CG13513;CG30219;CG34446;Dmel\\CG34446;Dmel_CG34446", "protein_name": "LITAF domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "A8DYZ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYZ1", "url": "https://www.uniprot.org/uniprotkb/A8DYZ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 499, "chemical_mass": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 24450.0, "gene_names": "Dmel\\CG40813;CG40813;CG46504;Dmel\\CG40813;Dmel\\CG46504;Dmel_CG40813;Dmel_CG46504", "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": "A8QI13", "url": "https://www.uniprot.org/uniprotkb/A8QI13" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "A8QI13", "url": "https://www.uniprot.org/uniprotkb/A8QI13" } ], "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 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"" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "cation-transporting ATPase complex", "id": "GO:0090533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090533", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7Z0X6", "url": "https://www.uniprot.org/uniprotkb/B7Z0X6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 621, "chemical_mass": 70975.0, "gene_names": "Ir7f;7f;CG15327;CG42292;DmelIR7f;Dmel\\CG42292;Dmel_CG42292;IR7f;Ir7f", "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": "B7Z0X6", "url": "https://www.uniprot.org/uniprotkb/B7Z0X6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7Z0X6", "url": "https://www.uniprot.org/uniprotkb/B7Z0X6" } ], "pmid": "" }, { "name": "membrane", "id": 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"serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "M9MS11", "url": "https://www.uniprot.org/uniprotkb/M9MS11" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "M9MS11", "url": "https://www.uniprot.org/uniprotkb/M9MS11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "M9MS20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 29695.0, "gene_names": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 869, "chemical_mass": 94051.0, "gene_names": "Srpk79D;BEST:CK01209;CG11489;CG9085;CK01209;Dmel\\CG11489;Dmel_CG11489;SRPK1;SRPK79D;SRPK;Srpk79D;atc;srpk79D;srpk79d", "protein_name": "Serine-arginine protein kinase at 79D", "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": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" } ], "pmid": "" }, { "name": "presynaptic active zone organization", "id": "GO:1990709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990709", "evidence": [ { "database": "UniProtKB", "id": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": 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"0112133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112133" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "M9PB41", "url": "https://www.uniprot.org/uniprotkb/M9PB41" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "M9PB41", "url": "https://www.uniprot.org/uniprotkb/M9PB41" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "M9PB41", "url": "https://www.uniprot.org/uniprotkb/M9PB41" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", 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"protein_name": "", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "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:0111513", "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome", "description": "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.", "url": "https://disease-ontology.org/term/DOID:0111513", "evidence": [ { "id": "0111513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111513" } ], "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: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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13994", "name": "cleidocranial dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.", "url": "https://disease-ontology.org/term/DOID:13994", "evidence": [ { "id": "13994", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13994" } ], "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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3033", "name": "colon signet ring adenocarcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3033", "evidence": [ { "id": "3033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3033" } ], "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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 } ], "biological_process": [ { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "eye morphogenesis", "id": "GO:0048592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048592", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "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": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "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": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M9PI08-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "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": 66, "start_aa": "Thr", "end_pos": 66, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr66", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "M9PI24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprotkb/M9PI24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1245, "chemical_mass": 142500.0, "gene_names": "Dmel\\CG6938;CG6938;Dmel\\CG6938;Dmel_CG6938", "protein_name": "Anoctamin", "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:0070201", "name": "Miyoshi muscular dystrophy 3", "description": "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0070201", "evidence": [ { "id": "0070201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070201" } ], "weight": 0.0 }, { "disease_id": "DOID:0090052", "name": "dystonia 24", "description": "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0090052", "evidence": [ { "id": "0090052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090052" } ], "weight": 0.0 }, { "disease_id": "DOID:0110284", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.", "url": "https://disease-ontology.org/term/DOID:0110284", "evidence": [ { "id": "0110284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110284" } ], "weight": 0.0 }, { "disease_id": "DOID:0111052", "name": "Scott syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111052", "evidence": [ { "id": "0111052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111052" } ], "weight": 0.0 }, { "disease_id": "DOID:0111338", "name": "isolated elevated serum creatine phosphokinase levels", "description": "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.", "url": "https://disease-ontology.org/term/DOID:0111338", "evidence": [ { "id": "0111338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111338" } ], "weight": 0.0 }, { "disease_id": "DOID:0111533", "name": "gnathodiaphyseal dysplasia", "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3.", "url": "https://disease-ontology.org/term/DOID:0111533", "evidence": [ { "id": "0111533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111533" } ], "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. 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], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8IRR0", "url": "https://www.uniprot.org/uniprotkb/Q8IRR0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q8IRR0", "url": "https://www.uniprot.org/uniprotkb/Q8IRR0" } ], "pmid": "" } ], "biological_process": [ { "name": "sterol biosynthetic process", "id": "GO:0016126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016126", "evidence": [ { "database": "UniProtKB", "id": "Q8IRR0", "url": "https://www.uniprot.org/uniprotkb/Q8IRR0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q8IRS9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" }, { "name": "alanyl aminopeptidase activity", "id": "GO:0016285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016285", "evidence": [ { "database": "UniProtKB", "id": "Q9VAM2", "url": "https://www.uniprot.org/uniprotkb/Q9VAM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VAQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 35593.0, "gene_names": "anon-WO0140519.6;BcDNA:GH26583;CG11841;Dmel\\CG11841;Dmel_CG11841;SP45;anon-WO0140519.18;anon-WO0140519.6", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ4" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ4" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ4", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VAR7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 458, "chemical_mass": 52197.0, "gene_names": "Dmel\\CG11828;CG11828;Dmel\\CG11828;Dmel_CG11828", "protein_name": "Prolyl 4-hydroxylase alpha subunit domain-containing protein", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "pmid": "" }, { "name": "procollagen-proline 4-dioxygenase activity", "id": "GO:0004656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004656", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VAR7", "url": "https://www.uniprot.org/uniprotkb/Q9VAR7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { 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[ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT5", "url": "https://www.uniprot.org/uniprotkb/Q9VAT5" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT5", "url": "https://www.uniprot.org/uniprotkb/Q9VAT5" } ], "pmid": "" }, { "name": "detection of pheromone", "id": "GO:0043695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043695", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT5", "url": "https://www.uniprot.org/uniprotkb/Q9VAT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VAT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAT6", "url": "https://www.uniprot.org/uniprotkb/Q9VAT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 298, "chemical_mass": 33347.0, "gene_names": "intr;CG12558;Dmel\\CG12558;Dmel_CG12558;Intr;SPH202;intr", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT6", "url": "https://www.uniprot.org/uniprotkb/Q9VAT6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT6", "url": "https://www.uniprot.org/uniprotkb/Q9VAT6" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VAT6", "url": 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VB21", "url": "https://www.uniprot.org/uniprotkb/Q9VB21" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1511, "chemical_mass": 165896.0, "gene_names": "Dmel\\CG5639;CG5639;CT17816;Dmel\\CG5639;Dmel_CG5639", "protein_name": "", "disease": [], "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": "Q9VB21", "url": "https://www.uniprot.org/uniprotkb/Q9VB21" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VB21", "url": "https://www.uniprot.org/uniprotkb/Q9VB21" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": 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"cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VB28", "url": "https://www.uniprot.org/uniprotkb/Q9VB28" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9VB28", "url": "https://www.uniprot.org/uniprotkb/Q9VB28" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9VB28", "url": "https://www.uniprot.org/uniprotkb/Q9VB28" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q9VB28", "url": "https://www.uniprot.org/uniprotkb/Q9VB28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.3" }, { "uniprot_canonical_ac": "Q9VB59-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VB59", "url": "https://www.uniprot.org/uniprotkb/Q9VB59" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 28958.0, "gene_names": "Dmel\\CG5984;CG5984;Dmel\\CG5984;Dmel_CG5984", "protein_name": "Filamin-A", "disease": [], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9VB59", "url": "https://www.uniprot.org/uniprotkb/Q9VB59" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": 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