[ { "uniprot_canonical_ac": "Q9W4T4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1209, "chemical_mass": 129413.0, "gene_names": "Pde4;dnc;CG10791;CG10792;CG10797;CG14267;CG14268;CG32498;DNC;Dmel\\CG32498;Dmel_CG32498;Dnc;Dunce PDE;Dunce;EG:140G11.4;EG:96G10.7;EG:BACN05I09.3;EG:BACN5I9.2;PDE4;PDEII;PDE;dnc;fs(1)M42", "protein_name": "3',5'-cyclic-AMP phosphodiesterase, isoform I", "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: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:11077", "name": "brucellosis", "description": "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.", "url": "https://disease-ontology.org/term/DOID:11077", "evidence": [ { "id": "11077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11077" } ], "weight": 0.0 }, { "disease_id": "DOID:14669", "name": "acrodysostosis", "description": "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.", "url": "https://disease-ontology.org/term/DOID:14669", "evidence": [ { "id": "14669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14669" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "nonassociative learning", "id": "GO:0046958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046958", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "mating behavior", "id": "GO:0007617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007617", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "conditioned taste aversion", "id": "GO:0001661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001661", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "thermosensory behavior", "id": "GO:0040040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040040", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "anesthesia-resistant memory", "id": "GO:0007615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007615", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "courtship behavior", "id": "GO:0007619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007619", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106072", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "medium-term memory", "id": "GO:0072375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072375", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" } ], "cellular_component": [ { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "3',5'-cyclic-AMP phosphodiesterase activity", "id": "GO:0004115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004115", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "3',5'-cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004114", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "Q9W4T4", "url": "https://www.uniprot.org/uniprotkb/Q9W4T4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W4T4-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Thr398", "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": 398, "start_aa": "Thr", "end_pos": 398, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr398", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W4T4-1" }, { "uniprot_canonical_ac": "Q9VCL4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCL4", "url": "https://www.uniprot.org/uniprotkb/Q9VCL4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": 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"https://www.uniprot.org/uniprotkb/A8DYE0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1339, "chemical_mass": 146759.0, "gene_names": "Kank;BEST:GH19041;BcDNA:GH03482;CG10249;Dmel\\CG10249;Dmel_CG10249;Kank;dKank;kank", "protein_name": "", "disease": [ { "disease_id": "DOID:0070554", "name": "palmoplantar keratoderma and woolly hair", "description": "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0070554", "evidence": [ { "id": "0070554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070554" } ], "weight": 0.0 }, { "disease_id": "DOID:0080272", "name": "nephrotic 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"pmid": "" }, { "name": "purine nucleotide biosynthetic process", "id": "GO:0006164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "Q9VA53", "url": "https://www.uniprot.org/uniprotkb/Q9VA53" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VA53", "url": "https://www.uniprot.org/uniprotkb/Q9VA53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VA53-1" }, { "uniprot_canonical_ac": "Q8IMS8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMS8", "url": "https://www.uniprot.org/uniprotkb/Q8IMS8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 634, "chemical_mass": 65613.0, "gene_names": "msi;3R11;CG5099;DMSIDNA;Dmel\\CG5099;Dmel_CG5099;MSI;Msi;SIDNA;anon-EST:Liang-2.35;clone 2.35;dMSI;dMsi;msi", "protein_name": "", "disease": [ { "disease_id": "DOID:0110306", "name": "autosomal dominant limb-girdle muscular dystrophy type 3", "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.", "url": "https://disease-ontology.org/term/DOID:0110306", "evidence": [ { "id": "0110306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110306" } ], "weight": 0.0 } ], "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": "Q8IMS8", "url": "https://www.uniprot.org/uniprotkb/Q8IMS8" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", 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"url": "https://www.uniprot.org/uniprotkb/Q8IMS8" } ], "pmid": "" }, { "name": "compound eye photoreceptor fate commitment", "id": "GO:0001752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001752", "evidence": [ { "database": "UniProtKB", "id": "Q8IMS8", "url": "https://www.uniprot.org/uniprotkb/Q8IMS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IMS8-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Thr138", "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": 138, "start_aa": "Thr", "end_pos": 138, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr138", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": 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Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. 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"pmid": "" } ], "molecular_function": [ { "name": "phosphate transmembrane transporter activity", "id": "GO:0005315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005315", "evidence": [ { "database": "UniProtKB", "id": "A1Z787", "url": "https://www.uniprot.org/uniprotkb/A1Z787" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "A1Z787", "url": "https://www.uniprot.org/uniprotkb/A1Z787" } ], "pmid": "" }, { "name": "thiosulfate transmembrane transporter activity", "id": "GO:0015117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015117", "evidence": [ { "database": "UniProtKB", "id": "A1Z787", "url": "https://www.uniprot.org/uniprotkb/A1Z787" } ], "pmid": "" }, { "name": "oxaloacetate transmembrane transporter activity", "id": "GO:0015131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015131", "evidence": [ { "database": "UniProtKB", 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" }, { "name": "imaginal disc growth factor receptor binding", "id": "GO:0008084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008084", "evidence": [ { "database": "UniProtKB", "id": "Q9W303", "url": "https://www.uniprot.org/uniprotkb/Q9W303" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W303-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Asn224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 224, "start_aa": "Asn", "end_pos": 224, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn224", "evidence": [ { "id": "Q9W303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9W303#ptm_processing" } ] } ] } ], "record_id": "Q9W303-1" }, { "uniprot_canonical_ac": "Q9W328-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 313, "chemical_mass": 35347.0, "gene_names": "Lst8;CG3004;Dmel\\CG3004;Gbl;LST8;Lst8;dGbetaL;dLST8;lst8", "protein_name": "Protein LST8 homolog", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "TORC2 complex", "id": "GO:0031932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031932", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" }, { "name": "positive regulation of transcription by transcription factor localization", "id": "GO:0061586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061586", "evidence": [ { "database": "UniProtKB", "id": "Q9W328", "url": "https://www.uniprot.org/uniprotkb/Q9W328" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W328-1" }, { "uniprot_canonical_ac": "Q9W349-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W349", "url": "https://www.uniprot.org/uniprotkb/Q9W349" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 826, "chemical_mass": 84722.0, "gene_names": "lz;CG1689;Dmel\\CG1689;LZ;Lozenge;Lz;amx;fs(1)A1569;fs(1)M69;lz;spe", "protein_name": "Protein lozenge", "disease": [ { "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: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: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: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: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": 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} ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C7", "url": "https://www.uniprot.org/uniprotkb/Q9W3C7" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C7", "url": "https://www.uniprot.org/uniprotkb/Q9W3C7" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C7", "url": "https://www.uniprot.org/uniprotkb/Q9W3C7" } ], "pmid": "" }, { "name": "palmitoyl-(protein) hydrolase activity", "id": "GO:0008474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008474", "evidence": [ { "database": "UniProtKB", "id": "Q9W3C7", "url": 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"https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "protein localization to nuclear inner membrane", "id": "GO:0036228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036228", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "chromosome attachment to the nuclear envelope", "id": "GO:0097240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097240", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear pore nuclear basket", "id": "GO:0044615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044615", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": "https://www.uniprot.org/uniprotkb/Q9XZ06" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ06", "url": 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morphogenesis", "id": "GO:0008407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008407", "evidence": [ { "database": "UniProtKB", "id": "Q9XZF0", "url": "https://www.uniprot.org/uniprotkb/Q9XZF0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9XZF0-1" }, { "uniprot_canonical_ac": "Q9XZT7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZT7", "url": "https://www.uniprot.org/uniprotkb/Q9XZT7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 146, "chemical_mass": 15784.0, "gene_names": "Taf10b;CG3069;Dmel\\CG3069;TAF10b;TAFII16;TAF[[II]]16;TAF[[II]];TAF;TFIID;Taf10b;Taf10;Taf16;TafII16;dTAF10b;dTAF[[II]]16;dTaf10b;dmTAF10b;dtafII16;taf10b", "protein_name": "Transcription initiation factor TFIID subunit 10b", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9XZT7", "url": "https://www.uniprot.org/uniprotkb/Q9XZT7" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q9XZT7", "url": "https://www.uniprot.org/uniprotkb/Q9XZT7" } ], "pmid": "" } ], "molecular_function": [ { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q9XZT7", "url": "https://www.uniprot.org/uniprotkb/Q9XZT7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9XZT7-1" }, { "uniprot_canonical_ac": "Q9Y106-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9Y106", "url": 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"biomarkers": [], "sites": [], "record_id": "Q9Y106-1" }, { "uniprot_canonical_ac": "Q9Y123-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9Y123", "url": "https://www.uniprot.org/uniprotkb/Q9Y123" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 556, "chemical_mass": 62426.0, "gene_names": "BcDNA:GH08388;CG3149;Dmel\\CG3149", "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "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:0080566", "name": 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"record_id": "A1Z6G6-1" }, { "uniprot_canonical_ac": "A1Z6N4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 637, "chemical_mass": 72026.0, "gene_names": "Tdc2;CG30446;CG3686;Dmel\\CG30446;Dmel_CG30446;TDC2;TDC;TdC2;Tdc2;Tdc;dTdc2;tdc2;tdc", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" } ], "biological_process": [ { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "octopamine biosynthetic process", "id": "GO:0006589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006589", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "carboxylic acid metabolic process", "id": "GO:0019752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019752", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "egg-laying behavior", "id": "GO:0018991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018991", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "tyramine biosynthetic process", "id": "GO:1901695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901695", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "carboxy-lyase activity", "id": "GO:0016831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016831", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" }, { "name": "tyrosine decarboxylase activity", "id": "GO:0004837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004837", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N4", "url": "https://www.uniprot.org/uniprotkb/A1Z6N4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6N4-1" }, { "uniprot_canonical_ac": "A1Z6N5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6N5", "url": "https://www.uniprot.org/uniprotkb/A1Z6N5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 440, "chemical_mass": 47578.0, "gene_names": "Dmel\\CG3270;CG3270;Dmel\\CG3270;Dmel_CG3270", "protein_name": "FAD-dependent oxidoreductase domain-containing protein 1", "disease": [ { "disease_id": "DOID:0112085", "name": "nuclear type mitochondrial complex I deficiency 19", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2.", "url": "https://disease-ontology.org/term/DOID:0112085", "evidence": [ { "id": "0112085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112085" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N5", "url": "https://www.uniprot.org/uniprotkb/A1Z6N5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N5", "url": "https://www.uniprot.org/uniprotkb/A1Z6N5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N5", "url": "https://www.uniprot.org/uniprotkb/A1Z6N5" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "A1Z6N5", "url": "https://www.uniprot.org/uniprotkb/A1Z6N5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z6N5-1" }, { "uniprot_canonical_ac": "A1Z6R4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6R4", "url": "https://www.uniprot.org/uniprotkb/A1Z6R4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 403, "chemical_mass": 45362.0, "gene_names": "Spn42Dc;CG9455;Dmel\\CG9455;Dmel_CG9455;Spn42Dc", "protein_name": "", "disease": [ { "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:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID: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", 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[], "sites": [], "record_id": "A1Z7B8-1" }, { "uniprot_canonical_ac": "A1Z7G9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7G9", "url": "https://www.uniprot.org/uniprotkb/A1Z7G9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 382, "chemical_mass": 44424.0, "gene_names": "beta3GalTII;CG8734;Dmel\\CG8734;Dmel_CG8734;GalTII;beta3GalTII;dGAGbeta3GalTII;dbeta3GalTII", "protein_name": "Hexosyltransferase", "disease": [ { "disease_id": "DOID:0050802", "name": "Ehlers-Danlos syndrome spondylodysplastic type 2", "description": "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the 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"Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 329, "chemical_mass": 38055.0, "gene_names": "Dmel\\CG8746;CG8746;Dmel\\CG8746;Dmel_CG8746", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7J0-1" }, { "uniprot_canonical_ac": "A1Z7L2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7L2", "url": "https://www.uniprot.org/uniprotkb/A1Z7L2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 113, "chemical_mass": 12815.0, "gene_names": "Dmel\\CG13748;CG13748;Dmel\\CG13748;Dmel_CG13748", "protein_name": "BPTI/Kunitz inhibitor domain-containing protein", "disease": [ { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper 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} ], "pmid": "" } ], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "A1Z8W6", "url": "https://www.uniprot.org/uniprotkb/A1Z8W6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A1Z8W6", "url": "https://www.uniprot.org/uniprotkb/A1Z8W6" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A1Z8W6", "url": "https://www.uniprot.org/uniprotkb/A1Z8W6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z8W6-1" }, { "uniprot_canonical_ac": "A1Z909-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"id": "A1Z9D7", "url": "https://www.uniprot.org/uniprotkb/A1Z9D7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1678, "chemical_mass": 187476.0, "gene_names": "arr;6;Arr;Arw;BEST:CK00539;CG5912;CK00539;CT15575;Dm Arr;Dmel\\CG5912;Dmel_CG5912;Irp6;LRP/Arr;LRP5/6;LRP6;LRP;arr;l(2)k08131", "protein_name": "Low-density lipoprotein receptor-related protein", "disease": [ { "disease_id": "DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.", "url": "https://disease-ontology.org/term/DOID:0050535", "evidence": [ { "id": "0050535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050535" } ], "weight": 0.0 }, { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system 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has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0060980", "evidence": [ { "id": "0060980", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060980" } ], "weight": 0.0 }, { "disease_id": "DOID:0080037", "name": "Worth syndrome", "description": "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.", "url": "https://disease-ontology.org/term/DOID:0080037", "evidence": [ { "id": "0080037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080037" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": 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"url": "https://www.uniprot.org/uniprotkb/A1Z9D7" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "A1Z9D7", "url": "https://www.uniprot.org/uniprotkb/A1Z9D7" } ], "pmid": "" }, { "name": "Wnt-Frizzled-LRP5/6 complex", "id": "GO:1990851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990851", "evidence": [ { "database": "UniProtKB", "id": "A1Z9D7", "url": "https://www.uniprot.org/uniprotkb/A1Z9D7" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A1Z9D7", "url": "https://www.uniprot.org/uniprotkb/A1Z9D7" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "A1Z9D7", "url": 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] } ] } ], "record_id": "O46067-1" }, { "uniprot_canonical_ac": "O46079-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O46079", "url": "https://www.uniprot.org/uniprotkb/O46079" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 33598.0, "gene_names": "EG:39E1.2;CG3587;Dmel\\CG3587;Dmel_CG3587;EG:39E1.2", "protein_name": "Protein KTI12 homolog", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O46079", "url": "https://www.uniprot.org/uniprotkb/O46079" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O46079", "url": "https://www.uniprot.org/uniprotkb/O46079" } ], "pmid": "" }, { "name": "tRNA wobble uridine modification", "id": "GO:0002098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002098", "evidence": [ { "database": "UniProtKB", "id": "O46079", "url": "https://www.uniprot.org/uniprotkb/O46079" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O46079-1" }, { "uniprot_canonical_ac": "O61444-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 424, "chemical_mass": 47534.0, "gene_names": "Mkk4;142758_at;CG9738;CT27508;D-MKK4;DMKK4;Dmel\\CG9738;Dmel_CG9738;JNKK2;MAPKK4;MKK4;Mkk4;Mpk4;P-MKK4;SEK1/MKK4;dMKK4;dMkk4;mkk4", "protein_name": "mitogen-activated protein kinase kinase", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050933", "name": "ovarian serous carcinoma", "description": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.", "url": "https://disease-ontology.org/term/DOID:0050933", "evidence": [ { "id": "0050933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050933" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and 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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:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "MAP kinase kinase activity", "id": "GO:0004708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004708", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" } ], "biological_process": [ { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" }, { "name": "regulation of adult chitin-containing cuticle pigmentation", "id": "GO:0048082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048082", "evidence": [ { "database": "UniProtKB", "id": "O61444", "url": "https://www.uniprot.org/uniprotkb/O61444" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O61444-1" }, { "uniprot_canonical_ac": "O76339-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76339", "url": "https://www.uniprot.org/uniprotkb/O76339" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 194, "chemical_mass": 21839.0, "gene_names": "agt;Agt;BG:DS00004.10;CG1303;DmAGT;Dmel\\CG1303;Dmel_CG1303;agt", "protein_name": "Methylated-DNA--protein-cysteine methyltransferase", "disease": [ { "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: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:1798", "name": "pancreatic endocrine carcinoma", "description": "An islet cell tumor that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1798", "evidence": [ { "id": "1798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1798" } ], "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: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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3181", "name": "oligodendroglioma", "description": "", "url": "https://disease-ontology.org/term/DOID:3181", "evidence": [ { "id": "3181", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3181" } ], "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: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: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:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5577" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "methylated-DNA-[protein]-cysteine S-methyltransferase activity", "id": "GO:0003908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003908", "evidence": [ { "database": "UniProtKB", "id": "O76339", "url": "https://www.uniprot.org/uniprotkb/O76339" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA alkylation repair", "id": "GO:0006307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006307", "evidence": [ { "database": "UniProtKB", "id": "O76339", "url": "https://www.uniprot.org/uniprotkb/O76339" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O76339", "url": "https://www.uniprot.org/uniprotkb/O76339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O76339-1" }, { "uniprot_canonical_ac": "O76521-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 543, "chemical_mass": 60010.0, "gene_names": "Kap-alpha1;CG8548;Dalpha1;Dmalpha1;Dmel\\CG8548;Dmel_CG8548;IMPalpha1;Imp alpha1;Imp-alpha1;Impalpha1;Kap alpha1;Kap-alpha-1;Kap-alpha1;Kapalpha1S1;Kpna1;alphaKap1;anon-WO0118547.276;imp alpha1;imp-alpha1;impalpha1", "protein_name": "Importin subunit alpha", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" }, { "name": "NLS-dependent protein nuclear import complex", "id": "GO:0042564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042564", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" }, { "name": "NLS-bearing protein import into nucleus", "id": "GO:0006607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006607", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" } ], "molecular_function": [ { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "O76521", "url": "https://www.uniprot.org/uniprotkb/O76521" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O76521-1" }, { "uniprot_canonical_ac": "O76742-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 207, "chemical_mass": 23331.0, "gene_names": "Rab7;AAF56218;CG5915;DRAB7;DRab7;Dm Rab7;DmRab7;Dmel\\CG5915;Drab7;O76742;RAB7;Rab-7;Rab-r7;Rab7A;Rab7;dRab7;drab7;rab7", "protein_name": "Ras-related protein Rab7", "disease": [ { "disease_id": "DOID:0050539", "name": "Charcot-Marie-Tooth disease type 2", "description": "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.", "url": "https://disease-ontology.org/term/DOID:0050539", "evidence": [ { "id": "0050539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050539" } ], "weight": 0.0 }, { "disease_id": "DOID:0110159", "name": "Charcot-Marie-Tooth disease type 2B", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.", "url": "https://disease-ontology.org/term/DOID:0110159", "evidence": [ { "id": "0110159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110159" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "exosomal secretion", "id": "GO:1990182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990182", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endosomal vesicle fusion", "id": "GO:0034058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034058", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "T-tubule organization", "id": "GO:0033292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033292", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "phagosome-lysosome fusion", "id": "GO:0090385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090385", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "endosome to lysosome transport via multivesicular body sorting pathway", "id": "GO:0032510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032510", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis involved in vitellogenesis", "id": "GO:0061883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061883", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "wing disc dorsal/ventral pattern formation", "id": "GO:0048190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048190", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "secretory granule-lysosome fusion", "id": "GO:0160156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160156", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" } ], "cellular_component": [ { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "autolysosome membrane", "id": "GO:0120281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120281", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O76742-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Thr47", "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": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "O76742", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76742" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Leu129", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" }, { "database": "PubMed", "id": "24327558", "url": "https://glygen.org/publication/PubMed/24327558" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Lys157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" }, { "database": "PubMed", "id": "24327558", "url": "https://glygen.org/publication/PubMed/24327558" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" }, { "database": "PubMed", "id": "24327558", "url": "https://glygen.org/publication/PubMed/24327558" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Val162", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Mutation with reduced function that causes Charcot-Marie-Tooth 2B in humans. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Associated with structures lacking other endosomal markers that accumulate in the center of motor neuron presynaptic boutons and in the photoreceptor synaptic layer. Reduced association with endosomal structures. Can rescue null mutant phenotype.", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" }, { "database": "PubMed", "id": "24327558", "url": "https://glygen.org/publication/PubMed/24327558" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Thr22", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "GDP-bound stabilized constitutively inactive dominant negative mutant. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Diffuse cytoplasmic localization. Cannot rescue null mutant or RNAi-mediated knockdown phenotype.", "evidence": [ { "database": "UniProtKB", "id": "O76742", "url": "https://www.uniprot.org/uniprotkb/O76742" }, { "database": "PubMed", "id": "24327558", "url": "https://glygen.org/publication/PubMed/24327558" }, { "database": "PubMed", "id": "34032568", "url": "https://glygen.org/publication/PubMed/34032568" } ] } ] }, { "uniprot_canonical_ac": "O76742-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Gln67", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "GTP-bound stabilized constitutively active mutant. Enhanced degradation of endocytosed signaling molecules leading to reduced range of signaling molecule concentration gradients. No detectable effect on viability, lifespan or behavior in heterozygous individuals. Increased association with enlarged late endosomal structures. 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0KHQ1-1" }, { "uniprot_canonical_ac": "Q0KHR7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KHR7", "url": "https://www.uniprot.org/uniprotkb/Q0KHR7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 49038.0, "gene_names": "Septin4;04-Sep;CG9699;Dmel\\CG9699;Dmel_CG9699;Sep4;Septin4;dSEPT4;sep4", "protein_name": "Septin", "disease": [ { "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). 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"database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q0KHU4", "url": "https://www.uniprot.org/uniprotkb/Q0KHU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0KHU4-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Thr195", 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KHX4", "url": "https://www.uniprot.org/uniprotkb/Q0KHX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 92, "chemical_mass": 9915.0, "gene_names": "Dmel\\CG42259;CG42259;C;Dmel\\CG42259;Dmel_CG42259;anon-1Ea", "protein_name": "TIL domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q0KHX4", "url": "https://www.uniprot.org/uniprotkb/Q0KHX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "Q0KHX4", "url": "https://www.uniprot.org/uniprotkb/Q0KHX4" } ], "pmid": "" }, { "name": "protein homodimerization activity", 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 27218.0, "gene_names": "Etfb;CG 7834;CG7834;Dmel\\CG7834;ETFB;Etfb;Q0KHZ6", "protein_name": "Electron transfer flavoprotein subunit beta", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). 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"comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 161, "start_aa": "Thr", "end_pos": 161, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr161", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q0KHZ6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q0KHZ6" } ] } ] } ], "record_id": "Q0KHZ6-1" }, { "uniprot_canonical_ac": "Q0KI27-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KI27", "url": "https://www.uniprot.org/uniprotkb/Q0KI27" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 305, "chemical_mass": 34782.0, "gene_names": "Dmel\\CG34149;CG12757;CG34149;Dmel\\CG34149;Dmel_CG34149", "protein_name": "BESS domain-containing protein", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q0KI27", "url": "https://www.uniprot.org/uniprotkb/Q0KI27" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q0KI27", "url": "https://www.uniprot.org/uniprotkb/Q0KI27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0KI27-1" }, { "uniprot_canonical_ac": "Q0KI42-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KI42", "url": "https://www.uniprot.org/uniprotkb/Q0KI42" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 897, "chemical_mass": 102149.0, "gene_names": "GluRIIE;CG31201;DmelGluRIIE;Dmel\\CG31201;Dmel_CG31201;GluR-IIE;GluRIIE", 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"UniProtKB", "id": "Q0KI42", "url": "https://www.uniprot.org/uniprotkb/Q0KI42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0KI42-1" }, { "uniprot_canonical_ac": "Q0KI81-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KI81", "url": "https://www.uniprot.org/uniprotkb/Q0KI81" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1429, "chemical_mass": 153861.0, "gene_names": "CG18479;CG14713;CG14714;CG18479;CG42327;Dmel\\CG42327;Dmel_CG42327;anon-WO0118547.710", "protein_name": "protein-tyrosine-phosphatase", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q0KI81", "url": "https://www.uniprot.org/uniprotkb/Q0KI81" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q0KI81", "url": "https://www.uniprot.org/uniprotkb/Q0KI81" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane receptor protein tyrosine phosphatase activity", "id": "GO:0005001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005001", "evidence": [ { "database": "UniProtKB", "id": "Q0KI81", "url": "https://www.uniprot.org/uniprotkb/Q0KI81" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q0KI81", "url": "https://www.uniprot.org/uniprotkb/Q0KI81" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0KI81-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Thr290", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", 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"molecular_function": [ { "name": "chromatin insulator sequence binding", "id": "GO:0043035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043035", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q1LZ24", "url": "https://www.uniprot.org/uniprotkb/Q1LZ24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q1LZ24-1" }, { "uniprot_canonical_ac": "Q24216-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 353, "chemical_mass": 39673.0, "gene_names": "Cdk7;CD 7;CDK7;CG3319;Cdk7;DmCDK7;DmCdk7;DmMO15;DmMo15;Dmcdk7;Dmel\\CG3319;Dmel_CG3319;Mo15;cdk-7;cdk7;dCdk7;p40[MO15]", "protein_name": "Cyclin-dependent kinase 7", "disease": [ { "disease_id": "DOID:0050593", "name": "primary congenital glaucoma", "description": "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities.", "url": "https://disease-ontology.org/term/DOID:0050593", "evidence": [ { "id": "0050593", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050593" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized 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It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": "https://www.uniprot.org/uniprotkb/Q24216" } ], "pmid": "" }, { "name": "RNA polymerase II promoter clearance", "id": "GO:0001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001111", "evidence": [ { "database": "UniProtKB", "id": "Q24216", "url": 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"https://www.uniprot.org/uniprotkb/Q500X4" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q500X4", "url": "https://www.uniprot.org/uniprotkb/Q500X4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q500X4", "url": "https://www.uniprot.org/uniprotkb/Q500X4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q500X4", "url": "https://www.uniprot.org/uniprotkb/Q500X4" } ], "pmid": "" }, { "name": "major mitochondrial derivative", "id": "GO:0016008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016008", "evidence": [ { "database": "UniProtKB", "id": "Q500X4", "url": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IJL2-1" }, { "uniprot_canonical_ac": "Q6IKE6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IKE6", "url": "https://www.uniprot.org/uniprotkb/Q6IKE6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 10922.0, "gene_names": "Dmel\\CG44261;CG44261;Dmel\\CG44261;Dmel_CG44261", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IKE6-1" }, { "uniprot_canonical_ac": "Q6IKG0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IKG0", "url": "https://www.uniprot.org/uniprotkb/Q6IKG0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 85, "chemical_mass": 10102.0, "gene_names": "Dmel\\CG34301;CG34301;Dmel\\CG34301;Dmel_CG34301", "protein_name": "DUF4219 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IKG0-1" }, { "uniprot_canonical_ac": "Q6IL18-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IL18", "url": "https://www.uniprot.org/uniprotkb/Q6IL18" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 255, "chemical_mass": 29053.0, "gene_names": "Dmel\\CG43085;CG43085;Dmel\\CG43085;Dmel_CG43085", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IL18-1" }, { "uniprot_canonical_ac": "Q6IL75-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IL75", "url": "https://www.uniprot.org/uniprotkb/Q6IL75" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 117, "chemical_mass": 12991.0, "gene_names": "Dmel\\CG43121;CG43121;Dmel\\CG43121;Dmel_CG43121", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IL75-1" }, { "uniprot_canonical_ac": "Q6ILD5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6ILD5", "url": "https://www.uniprot.org/uniprotkb/Q6ILD5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 107, "chemical_mass": 12016.0, "gene_names": "Dmel\\CG44362;CG44362;Dmel\\CG44362;Dmel_CG44362;FBgn0265469", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ILD5-1" }, { "uniprot_canonical_ac": "Q6ILD8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6ILD8", "url": "https://www.uniprot.org/uniprotkb/Q6ILD8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 158, "chemical_mass": 18405.0, "gene_names": "BP1014;BP1014;CG34012;Dmel\\CG34012;Dmel_CG34012", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ILD8-1" }, { "uniprot_canonical_ac": "Q6ILZ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6ILZ2", "url": "https://www.uniprot.org/uniprotkb/Q6ILZ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 426, "chemical_mass": 50138.0, "gene_names": "Grl62c;CG34259;Dmel\\CG34259;Dmel_CG34259;Grl62c", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6ILZ2", "url": "https://www.uniprot.org/uniprotkb/Q6ILZ2" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q6ILZ2", "url": "https://www.uniprot.org/uniprotkb/Q6ILZ2" } ], "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": "Q6ILZ2", "url": "https://www.uniprot.org/uniprotkb/Q6ILZ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ILZ2-1" }, { "uniprot_canonical_ac": "Q6ILZ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6ILZ3", "url": "https://www.uniprot.org/uniprotkb/Q6ILZ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 79, "chemical_mass": 9290.0, "gene_names": "Dmel\\CG42841;CG42841;Dmel\\CG42841;Dmel_CG42841", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6ILZ3-1" }, { "uniprot_canonical_ac": "Q6NN55-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 722, "chemical_mass": 81221.0, "gene_names": "oys;CG18445;Dmel\\CG18445;Oys;oys", "protein_name": "Lysophospholipid acyltransferase 6", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" } ], "biological_process": [ { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "lipid modification", "id": "GO:0030258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030258", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" } ], "molecular_function": [ { "name": "1-acylglycerophosphocholine O-acyltransferase activity", "id": "GO:0047184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047184", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "lysophospholipid acyltransferase activity", "id": "GO:0071617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071617", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" }, { "name": "acyltransferase activity", "id": "GO:0016746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016746", "evidence": [ { "database": "UniProtKB", "id": "Q6NN55", "url": "https://www.uniprot.org/uniprotkb/Q6NN55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6NN55-1" }, { "uniprot_canonical_ac": "Q6NR09-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6NR09", "url": "https://www.uniprot.org/uniprotkb/Q6NR09" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 421, "chemical_mass": 46099.0, "gene_names": "Egfrap;CG13289;CG13290;CG33993;Dmel\\CG33993;EGFRAP;Egfrap", "protein_name": "EGFR adapter protein", "disease": [], "cellular_component": [ { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "Q6NR09", "url": "https://www.uniprot.org/uniprotkb/Q6NR09" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q6NR09", "url": "https://www.uniprot.org/uniprotkb/Q6NR09" } ], "pmid": "" } ], "molecular_function": [ { "name": "receptor tyrosine kinase binding", "id": "GO:0030971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030971", "evidence": [ { "database": "UniProtKB", "id": "Q6NR09", "url": "https://www.uniprot.org/uniprotkb/Q6NR09" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q6NR09", "url": "https://www.uniprot.org/uniprotkb/Q6NR09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6NR09-1" }, { "uniprot_canonical_ac": "Q7KN94-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 330, "chemical_mass": 34181.0, "gene_names": "wal;BcDNA.LD07532;BcDNA:GH09945;BcDNA:LD07532;CG8996;Dmel\\CG8996;EP2253;ETFA;ETF;Etfa;Etf;P447;l(2)02516;wal", "protein_name": "Electron transfer flavoprotein subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial electron transfer flavoprotein complex", "id": "GO:0017133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017133", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q7KN94", "url": "https://www.uniprot.org/uniprotkb/Q7KN94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KN94-1" }, { "uniprot_canonical_ac": "Q7KT84-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 349, "chemical_mass": 39927.0, "gene_names": "Dmel\\CG18636;CG18636;Dmel\\CG18636;Dmel_CG18636;SP130;SPH130", "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": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q7KT84", "url": "https://www.uniprot.org/uniprotkb/Q7KT84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KT84-1" }, { "uniprot_canonical_ac": "Q7KTW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTW4", "url": "https://www.uniprot.org/uniprotkb/Q7KTW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 363, "chemical_mass": 40481.0, "gene_names": "Dmel\\CG12974;CG12974;Dmel\\CG12974;Dmel_CG12974", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTW4-1" }, { "uniprot_canonical_ac": "Q7KTX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTX4", "url": "https://www.uniprot.org/uniprotkb/Q7KTX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1062, "chemical_mass": 124178.0, "gene_names": "CG12982;CG12982;CG33286;Dmel\\CG33286;Dmel_CG33286", "protein_name": "", "disease": [], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX4", "url": "https://www.uniprot.org/uniprotkb/Q7KTX4" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX4", "url": "https://www.uniprot.org/uniprotkb/Q7KTX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KTX4-1" }, { "uniprot_canonical_ac": "Q7KU30-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1017, "chemical_mass": 112352.0, "gene_names": "E23;CG15410;CG3327;DmCG3327;Dmel\\CG3327;Dmel_CG3327;E23;e23", "protein_name": "", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q7KU30", "url": "https://www.uniprot.org/uniprotkb/Q7KU30" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KU30-1" }, { "uniprot_canonical_ac": "Q7KUG2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KUG2", "url": "https://www.uniprot.org/uniprotkb/Q7KUG2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 9693.0, "gene_names": "CG32084;CG14139;CG32084;CG33269;CG6100;Dmel\\CG33269;Dmel_CG33269;FBgn0053269", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KUG2-1" }, { "uniprot_canonical_ac": "Q7KUL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"Q7KVM8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KVM8", "url": "https://www.uniprot.org/uniprotkb/Q7KVM8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 292, "chemical_mass": 33258.0, "gene_names": "Dmel\\CG33226;CG10450;CG33226;Dmel\\CG33226;Dmel_CG33226;SP243;SP37;SPH37", "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": "Q7KVM8", "url": "https://www.uniprot.org/uniprotkb/Q7KVM8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q7KVM8", "url": "https://www.uniprot.org/uniprotkb/Q7KVM8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q7KVM8", "url": "https://www.uniprot.org/uniprotkb/Q7KVM8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KVM8-1" }, { "uniprot_canonical_ac": "Q7KVT0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KVT0", "url": "https://www.uniprot.org/uniprotkb/Q7KVT0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20095.0, "gene_names": "dec2;CG33223;Dmel\\CG33223;Dmel_CG33223", "protein_name": "Ubiquitin-like domain-containing protein", "disease": [], "biological_process": [ { "name": "egg chorion assembly", "id": "GO:0007306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007306", "evidence": [ { "database": "UniProtKB", "id": "Q7KVT0", "url": "https://www.uniprot.org/uniprotkb/Q7KVT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KVT0-1" }, { "uniprot_canonical_ac": "Q7PL76-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 841, "chemical_mass": 96925.0, "gene_names": "lt;CG18028;Dm-lt(het);Dmel\\CG18028;Lt;Vps41;l(2)40Fb;lt;vps41", "protein_name": "Vacuolar protein sorting-associated protein 41 homolog", "disease": [ { "disease_id": "DOID:0070410", "name": "autosomal recessive spinocerebellar ataxia 29", "description": "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early 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"id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": 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"" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q7PL76", "url": "https://www.uniprot.org/uniprotkb/Q7PL76" } ], "pmid": "" }, { "name": "vacuolar membrane", "id": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 18220.0, "gene_names": "Tim17b;CG40451;Dmel\\CG40451;Dmel_CG40451;Tim17b", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q7PLT4", "url": "https://www.uniprot.org/uniprotkb/Q7PLT4" } ], "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": "Q7PLT4", "url": "https://www.uniprot.org/uniprotkb/Q7PLT4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein insertion into mitochondrial inner membrane", "id": "GO:0045039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045039", "evidence": [ { "database": 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The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline.", "url": "https://disease-ontology.org/term/DOID:0081034", "evidence": [ { "id": "0081034", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081034" } ], "weight": 0.0 }, { "disease_id": "DOID:0112252", "name": "congenital nonspherocytic hemolytic anemia 6", "description": "A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22.", "url": "https://disease-ontology.org/term/DOID:0112252", "evidence": [ { "id": "0112252", "database": "AGR", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8I079", "url": "https://www.uniprot.org/uniprotkb/Q8I079" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8I079-1" }, { "uniprot_canonical_ac": "Q9VBD9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VBD9", "url": "https://www.uniprot.org/uniprotkb/Q9VBD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 285, "chemical_mass": 28485.0, "gene_names": "TwdlL;CG6447;Dmel\\CG6447;Dmel_CG6447;TwdIL;TwdlL", "protein_name": "", "disease": [], "biological_process": [ { "name": "body morphogenesis", "id": "GO:0010171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010171", "evidence": [ { "database": "UniProtKB", "id": "Q9VBD9", "url": "https://www.uniprot.org/uniprotkb/Q9VBD9" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": 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{ "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q8IMS3", "url": "https://www.uniprot.org/uniprotkb/Q8IMS3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IMS3-1" }, { "uniprot_canonical_ac": "Q8IMT3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMT3", "url": "https://www.uniprot.org/uniprotkb/Q8IMT3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 420, "chemical_mass": 49657.0, "gene_names": "Dmel\\CG31436;CG13660;CG31436;Dmel\\CG31436;Dmel_CG31436;Dro5-10", "protein_name": "CHK kinase-like domain-containing protein", "disease": [], "molecular_function": [ { "name": "ecdysteroid 22-kinase activity", "id": "GO:0106389", "url": 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chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": "UniProtKB", "id": "Q8IR09", "url": "https://www.uniprot.org/uniprotkb/Q8IR09" } ], "pmid": "" }, { "name": "structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "Q8IR09", "url": "https://www.uniprot.org/uniprotkb/Q8IR09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR09-1" }, { "uniprot_canonical_ac": "Q8IR11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR11", "url": "https://www.uniprot.org/uniprotkb/Q8IR11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 35827.0, "gene_names": 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"database": "UniProtKB", "id": "Q8IR11", "url": "https://www.uniprot.org/uniprotkb/Q8IR11" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": "UniProtKB", "id": "Q8IR11", "url": "https://www.uniprot.org/uniprotkb/Q8IR11" } ], "pmid": "" }, { "name": "structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "Q8IR11", "url": "https://www.uniprot.org/uniprotkb/Q8IR11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR11-1" }, { "uniprot_canonical_ac": "Q8IR70-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR70", "url": "https://www.uniprot.org/uniprotkb/Q8IR70" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 142, "chemical_mass": 15867.0, "gene_names": "Dmel\\CG32639;CG32639;Dmel\\CG32639;Dmel_CG32639", "protein_name": "RRM domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR70-1" }, { "uniprot_canonical_ac": "Q8IR83-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR83", "url": "https://www.uniprot.org/uniprotkb/Q8IR83" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 330, "chemical_mass": 36753.0, "gene_names": "Dmel\\CG32655;CG32655;Dmel\\CG32655;Dmel_CG32655", "protein_name": "Meiotic from via Salaria 332", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR83-1" }, { "uniprot_canonical_ac": "Q8IRD7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRD7", "url": "https://www.uniprot.org/uniprotkb/Q8IRD7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 71, "chemical_mass": 7760.0, "gene_names": "Drsl3;CG10813;CG32283;CT30310;Dmel\\CG32283;Dmel_CG32283;Dro-3;Dro3;Drs-lE;Drsl3;dro3;drsl3", "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": "Q8IRD7", "url": "https://www.uniprot.org/uniprotkb/Q8IRD7" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q8IRD7", "url": "https://www.uniprot.org/uniprotkb/Q8IRD7" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q8IRD7", "url": "https://www.uniprot.org/uniprotkb/Q8IRD7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRD7-1" }, { "uniprot_canonical_ac": "Q8IRE5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRE5", "url": "https://www.uniprot.org/uniprotkb/Q8IRE5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 130, "chemical_mass": 13919.0, "gene_names": "BcDNA:GM08588;BcDNA:GM08588;CG32280;Dmel\\CG32280;Dmel_CG32280", "protein_name": "LITAF domain-containing protein", "disease": [ { "disease_id": "DOID:0110151", "name": "Charcot-Marie-Tooth disease type 1C", "description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0110151", "evidence": [ { "id": "0110151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110151" } ], "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": "Q8IRE5", "url": "https://www.uniprot.org/uniprotkb/Q8IRE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE5", "url": "https://www.uniprot.org/uniprotkb/Q8IRE5" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE5", "url": "https://www.uniprot.org/uniprotkb/Q8IRE5" } ], "pmid": "" } ], "binding_glycans": [], 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"" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH1", "url": "https://www.uniprot.org/uniprotkb/Q8IRH1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH1", "url": "https://www.uniprot.org/uniprotkb/Q8IRH1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH1", "url": "https://www.uniprot.org/uniprotkb/Q8IRH1" } ], "pmid": "" }, { "name": "alanyl aminopeptidase activity", "id": "GO:0016285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016285", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH1", "url": "https://www.uniprot.org/uniprotkb/Q8IRH1" } ], "pmid": "" }, { 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fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 51, "chemical_mass": 5077.0, "gene_names": "NEST:bs15d07;CG30430;Dmel\\CG30430;Dmel_CG30430;NEST:bs01g11;NEST:bs02g04;NEST:bs04a11;NEST:bs12g08;NEST:bs13e09;NEST:bs14e02;NEST:bs15a10;NEST:bs15d07;NEST:bs17g03;NEST:bs27g03;NEST:bs29b02", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLN5-1" }, { "uniprot_canonical_ac": "Q8MLP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLP9", "url": "https://www.uniprot.org/uniprotkb/Q8MLP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 112, "chemical_mass": 12777.0, "gene_names": "BcDNA:RH70879;BcDNA:RH70879;CG30172;DmelCSP1;Dmel\\CG30172;Dmel_CG30172;anon-AE003462.1", "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": "Q8MLP9", "url": "https://www.uniprot.org/uniprotkb/Q8MLP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLP9-1" }, { "uniprot_canonical_ac": "Q8MLQ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLQ8", "url": "https://www.uniprot.org/uniprotkb/Q8MLQ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 206, "chemical_mass": 23976.0, "gene_names": "Dmel\\CG30177;CG30177;Dmel\\CG30177;Dmel_CG30177", "protein_name": "Receptor expression-enhancing protein", "disease": [], "biological_process": [ { "name": "endoplasmic reticulum tubular network organization", "id": "GO:0071786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071786", "evidence": [ { 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VB47", "url": "https://www.uniprot.org/uniprotkb/Q9VB47" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 254, "chemical_mass": 28960.0, "gene_names": "bigmax;BIGMAX;Bigmax;CG3350;DmMlx;Dmel\\CG3350;Dmel_CG3350;Mlx;bHLHd13;bigmax;cg3350;mlx", "protein_name": "", "disease": [ { "disease_id": "DOID:0070311", "name": "oligoasthenoteratozoospermia", "description": "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 696, "chemical_mass": 80129.0, "gene_names": "Nepl14;CG4723;Dmel\\CG4723;Dmel_CG4723;Nepl14", "protein_name": "", "disease": [ { "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": 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There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 337, "chemical_mass": 39932.0, "gene_names": "CG13844;CG13844;CG33110;CG6926;Dmel\\CG33110;Dmel_CG33110", "protein_name": "Elongation of very long chain fatty acids protein", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" } ], "biological_process": [ { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" }, { "name": "fatty acid elongation", "id": "GO:0030497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030497", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" }, { "name": "fatty acid elongation, monounsaturated fatty acid", "id": "GO:0034625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034625", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" }, { "name": "fatty acid elongation, polyunsaturated fatty acid", "id": "GO:0034626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034626", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" }, { "name": "fatty acid elongation, saturated fatty acid", "id": "GO:0019367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019367", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" }, { "name": "very long-chain fatty acid biosynthetic process", "id": "GO:0042761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042761", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid elongase activity", "id": "GO:0009922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009922", "evidence": [ { "database": "UniProtKB", "id": "Q9VCY5", "url": "https://www.uniprot.org/uniprotkb/Q9VCY5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VCY5-1" }, { "uniprot_canonical_ac": "Q9VD16-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD16", "url": "https://www.uniprot.org/uniprotkb/Q9VD16" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 21499.0, "gene_names": "Dmel\\CG13856;CG13856;Dmel\\CG13856;Dmel_CG13856", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD16-1" }, { "uniprot_canonical_ac": "Q9VD22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD22", "url": "https://www.uniprot.org/uniprotkb/Q9VD22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1136, "chemical_mass": 130188.0, "gene_names": "Dmel\\CG18596;CG18596;Dmel\\CG18596;Dmel_CG18596", "protein_name": "tRNA/rRNA methyltransferase SpoU type domain-containing protein", "disease": [], "molecular_function": [ { "name": "tRNA (guanine) methyltransferase activity", "id": "GO:0016423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016423", "evidence": [ { "database": "UniProtKB", "id": "Q9VD22", "url": "https://www.uniprot.org/uniprotkb/Q9VD22" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VD22", "url": "https://www.uniprot.org/uniprotkb/Q9VD22" } ], "pmid": "" }, { "name": "tRNA (guanine(18)-2'-O)-methyltransferase activity", "id": "GO:0141100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141100", "evidence": [ { "database": "UniProtKB", "id": "Q9VD22", "url": "https://www.uniprot.org/uniprotkb/Q9VD22" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA methylation", "id": "GO:0030488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030488", "evidence": [ { "database": "UniProtKB", "id": "Q9VD22", "url": "https://www.uniprot.org/uniprotkb/Q9VD22" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD22-1" }, { "uniprot_canonical_ac": "Q9VD40-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD40", "url": "https://www.uniprot.org/uniprotkb/Q9VD40" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 597, "chemical_mass": 68239.0, "gene_names": "Dmel\\CG7084;CG7084;Dmel\\CG7084;Dmel_CG7084", "protein_name": "Carcinine transporter", "disease": [ { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VD40", "url": "https://www.uniprot.org/uniprotkb/Q9VD40" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VD40", "url": "https://www.uniprot.org/uniprotkb/Q9VD40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD40-1" }, { "uniprot_canonical_ac": "Q9VD48-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD48", "url": "https://www.uniprot.org/uniprotkb/Q9VD48" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 10209.0, "gene_names": "BomBc3;BcDNA:RH16331;Bom791;BomBc3;CG5791;Dmel\\CG5791;Dmel_CG5791;bom", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VD48", "url": "https://www.uniprot.org/uniprotkb/Q9VD48" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD48-1" }, { "uniprot_canonical_ac": "Q9VD53-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD53", "url": "https://www.uniprot.org/uniprotkb/Q9VD53" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 547, "chemical_mass": 63160.0, "gene_names": "Dmel\\CG13409;CG13409;Dmel\\CG13409;Dmel_CG13409", "protein_name": "Transmembrane protein 181", "disease": [], "molecular_function": [ { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "Q9VD53", "url": "https://www.uniprot.org/uniprotkb/Q9VD53" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VD53", "url": "https://www.uniprot.org/uniprotkb/Q9VD53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD53-1" }, { "uniprot_canonical_ac": "Q9VDA0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1489, "chemical_mass": 169632.0, "gene_names": "Fancm;CG7922;Dmel\\CG7922;Fancm;cg7922;fancm", "protein_name": "DEAD-box ATP-dependent DNA helicase Fancm", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0080872", "name": "primary ovarian insufficiency 15", "description": "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21.", "url": "https://disease-ontology.org/term/DOID:0080872", "evidence": [ { "id": "0080872", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080872" } ], "weight": 0.0 }, { "disease_id": "DOID:0111916", "name": "spermatogenic failure 28", "description": "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2.", "url": "https://disease-ontology.org/term/DOID:0111916", "evidence": [ { "id": "0111916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111916" } ], "weight": 0.0 }, { "disease_id": "DOID:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. 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"" }, { "name": "four-way junction DNA binding", "id": "GO:0000400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000400", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "four-way junction helicase activity", "id": "GO:0009378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009378", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "negative regulation of mitotic recombination", "id": "GO:0045950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045950", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "interstrand cross-link repair", "id": "GO:0036297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036297", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "recombinational repair", "id": "GO:0000725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000725", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "double-strand break repair via synthesis-dependent strand annealing", "id": "GO:0045003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045003", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" }, { "name": "homologous recombination", "id": "GO:0035825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035825", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VDA0-1", "start_pos": "1144", "end_pos": "1144", "site_lbl": "Ser1144", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 1144, "start_aa": "Ser", "end_pos": 1144, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1144", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VDA0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VDA0" } ] } ] }, { "uniprot_canonical_ac": "Q9VDA0-1", "start_pos": "1145", "end_pos": "1145", "site_lbl": "Thr1145", "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": 1145, "start_aa": "Thr", "end_pos": 1145, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1145", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VDA0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VDA0" } ] } ] }, { "uniprot_canonical_ac": "Q9VDA0-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Thr218", "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": 218, "start_aa": "Thr", "end_pos": 218, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr218", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VDA0-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Lys84", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of ATPase and helicase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VDA0", "url": "https://www.uniprot.org/uniprotkb/Q9VDA0" }, { "database": "PubMed", "id": "27466228", "url": "https://glygen.org/publication/PubMed/27466228" } ] } ] } ], "record_id": "Q9VDA0-1" }, { "uniprot_canonical_ac": "Q9VDC3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 142, "chemical_mass": 16964.0, "gene_names": "AP-2sigma;AP-2 sigma;AP-2-sigma;AP-2sigma;AP2-sigma;AP2;CG6056;Dmel\\CG6056;Dmel_CG6056;aps2;cg6056;sigma2-ada;sigma2", "protein_name": "AP complex subunit sigma", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060702", "name": "familial hypocalciuric hypercalcemia 3", "description": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0060702", "evidence": [ { "id": "0060702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060702" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" } ], "cellular_component": [ { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" } ], "molecular_function": [ { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC3", "url": "https://www.uniprot.org/uniprotkb/Q9VDC3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDC3-1" }, { "uniprot_canonical_ac": "Q9VDC6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 879, "chemical_mass": 98513.0, "gene_names": "e;CG3331;Dmel\\CG3331;Ebony;e", "protein_name": "Beta-alanyl-bioamine nonribosomal peptide synthetase ebony", "disease": [], "biological_process": [ { "name": "negative regulation of melanin biosynthetic process", "id": "GO:0048022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048022", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "melanin biosynthetic process from tyrosine", "id": "GO:0006583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006583", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "histamine metabolic process", "id": "GO:0001692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001692", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "cuticle pigmentation", "id": "GO:0048067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048067", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "chitin-based cuticle sclerotization", "id": "GO:0007593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007593", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "pigment metabolic process", "id": "GO:0042440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042440", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "amino acid adenylylation by nonribosomal peptide synthase", "id": "GO:0043042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043042", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" }, { "name": "regulation of adult chitin-containing cuticle pigmentation", "id": "GO:0048082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048082", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-alanyl amine synthase activity", "id": "GO:0003833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003833", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VDC6-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Ser611", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Impairs attachment of prosthetic group pantetheine 4'-phosphate and thus, the transfer of beta-alanine to the carrier domain. No effect on beta-alanine adenylation. Causes dark body pigmentation.", "evidence": [ { "database": "UniProtKB", "id": "Q9VDC6", "url": "https://www.uniprot.org/uniprotkb/Q9VDC6" }, { "database": "PubMed", "id": "25229196", "url": "https://glygen.org/publication/PubMed/25229196" }, { "database": "PubMed", "id": "12900414", "url": "https://glygen.org/publication/PubMed/12900414" } ] } ] } ], "record_id": "Q9VDC6-1" }, { "uniprot_canonical_ac": "Q9VDF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 559, "chemical_mass": 61083.0, "gene_names": "Cortactin;CG3637;Cortactin;Dmel\\CG3637;Dmel_CG3637;cortactin;cttn", "protein_name": "", "disease": [], "biological_process": [ { "name": "protein localization to actin cytoskeleton", "id": "GO:1903119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903119", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "positive regulation of Arp2/3 complex-mediated actin nucleation", "id": "GO:2000601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000601", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "female germline ring canal formation", "id": "GO:0007301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007301", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": "https://www.uniprot.org/uniprotkb/Q9VDF4" } ], "pmid": "" }, { "name": "actin cap", "id": "GO:0030478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030478", "evidence": [ { "database": "UniProtKB", "id": "Q9VDF4", "url": 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"name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VDJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VDJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDJ8-1" }, { "uniprot_canonical_ac": "Q9VDK2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDK2", "url": "https://www.uniprot.org/uniprotkb/Q9VDK2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 594, "chemical_mass": 63383.0, "gene_names": "Dmel\\CG5466;CG5466;Dmel\\CG5466;Dmel_CG5466", "protein_name": "Genetic suppressor element-like domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDK2-1" }, { "uniprot_canonical_ac": "Q9VDT2-1", "species": [ { "name": 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"weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9VEC2", "url": "https://www.uniprot.org/uniprotkb/Q9VEC2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VEC2", "url": "https://www.uniprot.org/uniprotkb/Q9VEC2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VEC2", "url": "https://www.uniprot.org/uniprotkb/Q9VEC2" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome assembly", "id": "GO:0043248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043248", "evidence": [ { "database": "UniProtKB", "id": "Q9VEC2", "url": "https://www.uniprot.org/uniprotkb/Q9VEC2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VEC2-1" }, { "uniprot_canonical_ac": "Q9VEC8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEC8", "url": "https://www.uniprot.org/uniprotkb/Q9VEC8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 130, "chemical_mass": 14749.0, "gene_names": "CG32920;CG32920;CG7215;Dmel\\CG7215;Dmel_CG7215", "protein_name": "Ubiquitin-like domain-containing protein", "disease": [], "biological_process": [ { "name": "post-translational protein targeting to endoplasmic reticulum membrane", "id": "GO:0006620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006620", "evidence": [ { "database": "UniProtKB", "id": "Q9VEC8", "url": "https://www.uniprot.org/uniprotkb/Q9VEC8" } ], "pmid": "" }, { "name": "tail-anchored membrane protein insertion into ER membrane", "id": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VF40-1" }, { "uniprot_canonical_ac": "Q9VF80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF80", "url": "https://www.uniprot.org/uniprotkb/Q9VF80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 668, "chemical_mass": 74755.0, "gene_names": "Atg4b;APG4;ATG4;AUT2;Atg4b;Atg4;CG6194;DmAtg4-like;Dmel\\CG6194;Dmel_CG6194;atg4b;atg4", "protein_name": "Cysteine protease", "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": 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recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VG51", "url": "https://www.uniprot.org/uniprotkb/Q9VG51" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "Q9VG51", "url": "https://www.uniprot.org/uniprotkb/Q9VG51" } ], "pmid": "" }, { "name": "late endosome to Golgi transport", "id": "GO:0034499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034499", "evidence": [ { "database": "UniProtKB", "id": "Q9VG51", "url": "https://www.uniprot.org/uniprotkb/Q9VG51" } ], "pmid": "" }, { "name": "wing disc development", "id": "GO:0035220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035220", "evidence": [ { "database": "UniProtKB", "id": "Q9VG51", "url": "https://www.uniprot.org/uniprotkb/Q9VG51" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q9VG51", "url": "https://www.uniprot.org/uniprotkb/Q9VG51" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG51-1" }, { "uniprot_canonical_ac": "Q9VG68-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG68", "url": "https://www.uniprot.org/uniprotkb/Q9VG68" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 361, "chemical_mass": 41903.0, "gene_names": "Desat2;7-11HD;CG5925;Desat2;Dmel NPTQ Z9;Dmel NPTQ;Dmel\\CG5925;Dmel_CG5925;Fad;desat 2;desat-2;desat2/Fad;desat2;desat;ds2", "protein_name": "", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A 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"GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "Q9VG68", "url": "https://www.uniprot.org/uniprotkb/Q9VG68" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG68-1" }, { "uniprot_canonical_ac": "Q9VG84-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG84", "url": "https://www.uniprot.org/uniprotkb/Q9VG84" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 806, "chemical_mass": 90848.0, "gene_names": "DNAlig3;CG17227;DNA-ligII;DNAlig3;Dmel\\CG17227;Dmel_CG17227;LIG3;Lig3;lig 3;lig3", "protein_name": "DNA ligase", "disease": [ { "disease_id": "DOID:0070451", "name": "mitochondrial DNA depletion syndrome 20", "description": "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy 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[7227]" } ], "length": 664, "chemical_mass": 70818.0, "gene_names": "dpr17;CG14737;CG14738;CG31361;CT34531;Dmel\\CG31361;Dmel_CG31361;Dpr-17;Dpr17;dpr17", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VGD3", "url": "https://www.uniprot.org/uniprotkb/Q9VGD3" } ], "pmid": "" }, { "name": "neuron projection membrane", "id": "GO:0032589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032589", "evidence": [ { "database": "UniProtKB", "id": "Q9VGD3", "url": "https://www.uniprot.org/uniprotkb/Q9VGD3" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VGD3", "url": "https://www.uniprot.org/uniprotkb/Q9VGD3" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q9VGD3", "url": "https://www.uniprot.org/uniprotkb/Q9VGD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGD3-1" }, { "uniprot_canonical_ac": "Q9VGE4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGE4", "url": "https://www.uniprot.org/uniprotkb/Q9VGE4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1135, "chemical_mass": 130122.0, "gene_names": "GCC185;CG3532;Dmel\\CG3532;Dmel_CG3532;GCC185;dGCC185", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE4", "url": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGE7", "url": "https://www.uniprot.org/uniprotkb/Q9VGE7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 637, "chemical_mass": 71897.0, "gene_names": "Ect3;87A7-9/8;8;CG3132;Dmel\\CG3132;Dmel_CG3132;Ect3;anon-87Ag", "protein_name": "Beta-galactosidase", "disease": [ { "disease_id": "DOID:0080489", "name": "GM1 gangliosidosis type 3", "description": "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.", "url": "https://disease-ontology.org/term/DOID:0080489", "evidence": [ { "id": "0080489", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080489" } ], "weight": 0.0 }, { "disease_id": "DOID:0080501", "name": "GM1 gangliosidosis type 2", "description": "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.", "url": "https://disease-ontology.org/term/DOID:0080501", "evidence": [ { "id": "0080501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080501" } ], "weight": 0.0 }, { "disease_id": "DOID:0080502", "name": "GM1 gangliosidosis type 1", "description": "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.", "url": "https://disease-ontology.org/term/DOID:0080502", "evidence": [ { "id": "0080502", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080502" } ], "weight": 0.0 }, { "disease_id": "DOID:0111392", "name": "mucopolysaccharidosis type IVB", "description": "A mucopolysaccharidosis IV characterized by skeletal dysplasia, 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"transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VGN6", "url": "https://www.uniprot.org/uniprotkb/Q9VGN6" } ], "pmid": "" }, { "name": "nucleotide-sugar transmembrane transport", "id": "GO:0015780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015780", "evidence": [ { "database": "UniProtKB", "id": "Q9VGN6", "url": "https://www.uniprot.org/uniprotkb/Q9VGN6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGN6-1" }, { "uniprot_canonical_ac": "Q9VGN8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGN8", "url": "https://www.uniprot.org/uniprotkb/Q9VGN8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 419, "chemical_mass": 47679.0, "gene_names": "Dmel\\CG5276;CG5276;Dmel\\CG5276;Dmel_CG5276", 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 519, "chemical_mass": 59042.0, "gene_names": "Ugt302K1;AC 006491I;CG6658;Dmel\\CG6658;Dmel_CG6658;UGT302K1;Ugt302K1;Ugt86Di", "protein_name": "UDP-glucuronosyltransferase", "disease": [ { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:11151", "name": "cholecystolithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:11151", "evidence": [ { "id": "11151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11151" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": 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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: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:2739", "name": "Gilbert syndrome", "description": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.", "url": "https://disease-ontology.org/term/DOID:2739", "evidence": [ { "id": "2739", 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"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: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:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": 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"description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "Q9VGT5", "url": "https://www.uniprot.org/uniprotkb/Q9VGT5" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q9VGT5", "url": "https://www.uniprot.org/uniprotkb/Q9VGT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VGT5", "url": "https://www.uniprot.org/uniprotkb/Q9VGT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGT5-1" }, { "uniprot_canonical_ac": "Q9VGV6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGV6", "url": "https://www.uniprot.org/uniprotkb/Q9VGV6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 446, "chemical_mass": 50312.0, "gene_names": "Dmel\\CG14694;CG14694;Dmel\\CG14694;Dmel_CG14694", "protein_name": "Thiamine transporter 1", "disease": [ { "disease_id": "DOID:0050659", "name": "biotin-responsive basal ganglia disease", "description": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.", "url": "https://disease-ontology.org/term/DOID:0050659", "evidence": [ { "id": "0050659", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050659" } ], "weight": 0.0 }, { "disease_id": "DOID:0060770", "name": "dextro-looped transposition of the great arteries", "description": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0060770", "evidence": [ { "id": "0060770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060770" } ], "weight": 0.0 }, { "disease_id": "DOID:0061080", "name": "immunodeficiency 114", "description": "A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0061080", "evidence": [ { "id": "0061080", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061080" } ], "weight": 0.0 }, { "disease_id": "DOID:0090117", "name": "thiamine-responsive megaloblastic anemia syndrome", "description": "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24.", "url": "https://disease-ontology.org/term/DOID:0090117", "evidence": [ { "id": "0090117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090117" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13382", "name": "megaloblastic anemia", "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.", "url": "https://disease-ontology.org/term/DOID:13382", "evidence": [ { "id": "13382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13382" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal 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"url": "https://www.uniprot.org/uniprotkb/Q9VS54" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 338, "chemical_mass": 38826.0, "gene_names": "qm;CG8593;Dmel\\CG8593;Dmel_CG8593;GGPPS/qm;GGPPS;Qm;bro2;qm", "protein_name": "", "disease": [], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VS54", "url": "https://www.uniprot.org/uniprotkb/Q9VS54" } ], "pmid": "" }, { "name": "geranylgeranyl diphosphate synthase activity", "id": "GO:0004311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004311", "evidence": [ { "database": "UniProtKB", "id": "Q9VS54", "url": "https://www.uniprot.org/uniprotkb/Q9VS54" } ], "pmid": "" } ], "biological_process": [ { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": 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"pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT9", "url": "https://www.uniprot.org/uniprotkb/Q9VPT9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT9", "url": "https://www.uniprot.org/uniprotkb/Q9VPT9" } ], "pmid": "" } ], "molecular_function": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q9VPT9", "url": "https://www.uniprot.org/uniprotkb/Q9VPT9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPT9-1" }, { "uniprot_canonical_ac": "Q9XZ10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": 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"0061166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061166" } ], "weight": 0.0 }, { "disease_id": "DOID:0070134", "name": "autosomal recessive cutis laxa type IIA", "description": "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0070134", "evidence": [ { "id": "0070134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070134" } ], "weight": 0.0 }, { "disease_id": "DOID:0070390", "name": "developmental and epileptic encephalopathy 104", "description": "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.", "url": 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"https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "proton-transporting ATPase activity, rotational mechanism", "id": "GO:0046961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046961", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "photoreceptor activity", "id": "GO:0009881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009881", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase, V0 domain", "id": "GO:0000220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000220", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex", "id": "GO:0016471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016471", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ10", "url": "https://www.uniprot.org/uniprotkb/Q9XZ10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9XZ10-1" }, { "uniprot_canonical_ac": "Q9VS45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 647, "chemical_mass": 73702.0, "gene_names": "RhoGEF4;CG8606;DRhoGEF4;Dmel\\CG8606;Dmel_CG8606;RhoGEF4;RhoGEF", "protein_name": "", "disease": [ { "disease_id": "DOID:0110192", "name": "Charcot-Marie-Tooth disease type 4H", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).", "url": "https://disease-ontology.org/term/DOID:0110192", "evidence": [ { "id": "0110192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110192" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "pmid": "" }, { "name": "mitotic actomyosin contractile ring", "id": "GO:0110085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110085", "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "Q9VS45", "url": "https://www.uniprot.org/uniprotkb/Q9VS45" } ], "pmid": "" }, { "name": 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"UniProtKB", "id": "Q9VXV6", "url": "https://www.uniprot.org/uniprotkb/Q9VXV6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 38544.0, "gene_names": "Scamp;BcDNA:GM04934;CG9195;Dmel\\CG9195;Dmel_CG9195;SCAMP;Scamp;Sc;anon-EST:fe1F7;dmSCAMP;dmSC", "protein_name": "Secretory carrier-associated membrane protein", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of 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"database": "UniProtKB", "id": "Q9VXV6", "url": "https://www.uniprot.org/uniprotkb/Q9VXV6" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9VXV6", "url": "https://www.uniprot.org/uniprotkb/Q9VXV6" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q9VXV6", "url": "https://www.uniprot.org/uniprotkb/Q9VXV6" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q9VXV6", "url": "https://www.uniprot.org/uniprotkb/Q9VXV6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXV6-1" }, { "uniprot_canonical_ac": "Q9VXW9-1", "species": [ { "name": "Drosophila melanogaster", 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], "pmid": "" } ], "biological_process": [ { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9VXG0", "url": "https://www.uniprot.org/uniprotkb/Q9VXG0" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "Q9VXG0", "url": "https://www.uniprot.org/uniprotkb/Q9VXG0" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9VXG0", "url": "https://www.uniprot.org/uniprotkb/Q9VXG0" } ], "pmid": "" }, { "name": "aminophospholipid flippase activity", "id": "GO:0015247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015247", "evidence": [ { "database": "UniProtKB", "id": "Q9VXG0", "url": 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"https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:0112313", "name": "brain small vessel disease", "description": "A brain disease characterized by abnormalities in the small blood vessels in the brain.", "url": "https://disease-ontology.org/term/DOID:0112313", "evidence": [ { "id": "0112313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112313" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10611", "name": "protein-losing enteropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:10611", "evidence": [ { "id": "10611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10611" } ], "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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:8481", "name": "rheumatic myocarditis", "description": "", "url": "https://disease-ontology.org/term/DOID:8481", "evidence": [ { "id": "8481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8481" } ], "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:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair organization", "id": "GO:0035317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035317", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "establishment of ommatidial planar polarity", "id": "GO:0042067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042067", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VYR4", "url": "https://www.uniprot.org/uniprotkb/Q9VYR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VYR4-1" }, { "uniprot_canonical_ac": "Q9VUX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUX4", "url": "https://www.uniprot.org/uniprotkb/Q9VUX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 453, "chemical_mass": 51717.0, "gene_names": "Dmel\\CG5895;CG5895;Dmel\\CG5895;Dmel_CG5895", "protein_name": "", "disease": [], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VUX4", "url": "https://www.uniprot.org/uniprotkb/Q9VUX4" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q9VUX4", "url": "https://www.uniprot.org/uniprotkb/Q9VUX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VUX4-1" }, { "uniprot_canonical_ac": "Q9VUU9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUU9", "url": "https://www.uniprot.org/uniprotkb/Q9VUU9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 524, "chemical_mass": 59847.0, "gene_names": "meru;CG12712;CG15714;CG32150;Dmel\\CG32150;Dmel_CG32150;meru", "protein_name": "", "disease": [], "cellular_component": [ { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VUU9", "url": "https://www.uniprot.org/uniprotkb/Q9VUU9" } ], "pmid": "" }, { "name": "posterior cell cortex", "id": "GO:0061803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061803", "evidence": [ { "database": "UniProtKB", "id": "Q9VUU9", "url": "https://www.uniprot.org/uniprotkb/Q9VUU9" } ], 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"MARVEL domain-containing protein", "disease": [], "biological_process": [ { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "Q9VUF9", "url": "https://www.uniprot.org/uniprotkb/Q9VUF9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VUF9", "url": "https://www.uniprot.org/uniprotkb/Q9VUF9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VUF9-1", "start_pos": "67", "end_pos": "67", "site_lbl": "Thr67", "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": "", 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"regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "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": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification, imaginal disc", "id": "GO:0007448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007448", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "histoblast morphogenesis", "id": "GO:0007488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007488", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "spectrosome organization", "id": "GO:0030721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030721", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "regulation of imaginal disc growth", "id": "GO:0045570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045570", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "negative regulation of salivary gland boundary specification", "id": "GO:0045705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045705", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "wing disc anterior/posterior pattern formation", "id": "GO:0048100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048100", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "anterior Malpighian tubule development", "id": "GO:0061327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061327", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "cell elongation involved in imaginal disc-derived wing morphogenesis", "id": "GO:0090254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090254", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "activin receptor signaling pathway", "id": "GO:0032924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032924", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "amnioserosa formation", "id": "GO:0007378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007378", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "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": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "dorsal closure, amnioserosa morphology change", "id": "GO:0046664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046664", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" }, { "name": "positive regulation of muscle organ development", "id": "GO:0048636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048636", "evidence": [ { "database": "UniProtKB", "id": "Q9VMT1", "url": "https://www.uniprot.org/uniprotkb/Q9VMT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMT1-1" }, { "uniprot_canonical_ac": "Q9VPD6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 22475.0, "gene_names": "BNIP3;BBH1;BNIP3;Bnip3;CG5059;Dmel\\CG5059;Dmel_CG5059", "protein_name": "", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "mitochondrion autophagosome adaptor activity", "id": "GO:0140580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140580", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane permeabilization", "id": "GO:0097345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097345", "evidence": [ { "database": "UniProtKB", "id": "Q9VPD6", "url": "https://www.uniprot.org/uniprotkb/Q9VPD6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPD6-1" }, { "uniprot_canonical_ac": "Q9VW94-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VW94", "url": "https://www.uniprot.org/uniprotkb/Q9VW94" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 363, "chemical_mass": 38544.0, "gene_names": "Dmel\\CG6933;CG6933;Dmel\\CG6933;Dmel_CG6933", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VW94", "url": "https://www.uniprot.org/uniprotkb/Q9VW94" } ], "pmid": "" }, { "name": "external encapsulating structure", "id": "GO:0030312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030312", "evidence": [ { "database": "UniProtKB", "id": "Q9VW94", "url": "https://www.uniprot.org/uniprotkb/Q9VW94" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VW94", "url": "https://www.uniprot.org/uniprotkb/Q9VW94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VW94-1" }, { "uniprot_canonical_ac": "Q9W330-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W330", "url": "https://www.uniprot.org/uniprotkb/Q9W330" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 541, "chemical_mass": 59229.0, "gene_names": "Hex-A;B;CG3001;DM1;Dmel\\CG3001;Dmel_CG3001;HEX-A;HEX;HK-A;HK;Hex-A:B;Hex-A;HexA;Hex;hexokinase", "protein_name": "Phosphotransferase", "disease": [ { "disease_id": "DOID:0050524", "name": "maturity-onset diabetes of the young", "description": "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.", "url": "https://disease-ontology.org/term/DOID:0050524", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ], "weight": 0.0 }, { "disease_id": "DOID:0051006", "name": "congenital nonspherocytic hemolytic anemia 5", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0051006", "evidence": [ { "id": "0051006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051006" } ], "weight": 0.0 }, { "disease_id": "DOID:0060639", "name": "permanent neonatal diabetes mellitus", "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.", "url": "https://disease-ontology.org/term/DOID:0060639", "evidence": [ { "id": "0060639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060639" } ], "weight": 0.0 }, { "disease_id": "DOID:0061107", "name": "retinitis pigmentosa 92", "description": "A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0061107", "evidence": [ { "id": "0061107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061107" } ], "weight": 0.0 }, { "disease_id": "DOID:0061108", "name": "retinitis pigmentosa 79", "description": "A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0061108", "evidence": [ { "id": "0061108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061108" } ], "weight": 0.0 }, { "disease_id": "DOID:0070216", "name": "familial hyperinsulinemic hypoglycemia 3", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13.", "url": "https://disease-ontology.org/term/DOID:0070216", "evidence": [ { "id": "0070216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070216" } ], "weight": 0.0 }, { "disease_id": "DOID:0110196", "name": "Charcot-Marie-Tooth disease type 4G", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0110196", "evidence": [ { "id": "0110196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110196" } ], "weight": 0.0 }, { "disease_id": "DOID:0111100", "name": "maturity-onset diabetes of the young type 2", "description": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.", "url": "https://disease-ontology.org/term/DOID:0111100", "evidence": [ { "id": "0111100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111100" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11717", "name": "neonatal diabetes mellitus", "description": "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.", "url": "https://disease-ontology.org/term/DOID:11717", "evidence": [ { "id": "11717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11717" } ], "weight": 0.0 }, { "disease_id": "DOID:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "url": "https://disease-ontology.org/term/DOID:13317", "evidence": [ { "id": "13317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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: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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { 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"" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "Q9W330", "url": "https://www.uniprot.org/uniprotkb/Q9W330" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "Q9W330", "url": "https://www.uniprot.org/uniprotkb/Q9W330" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "Q9W330", "url": "https://www.uniprot.org/uniprotkb/Q9W330" } ], "pmid": "" }, { "name": "GDP-mannose biosynthetic process from mannose", "id": "GO:0061728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061728", "evidence": [ { "database": "UniProtKB", "id": "Q9W330", "url": "https://www.uniprot.org/uniprotkb/Q9W330" } ], "pmid": "" } ], 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{ "uniprot_canonical_ac": "Q9W330-1", "start_pos": "51", "end_pos": "51", "site_lbl": "Thr51", "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": 51, "start_aa": "Thr", "end_pos": 51, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr51", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9W330", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9W330" } ] } ] }, { "uniprot_canonical_ac": "Q9W330-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Thr52", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", 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"url": "https://www.uniprot.org/uniprotkb/Q9VK60" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 257, "chemical_mass": 28706.0, "gene_names": "Dmel\\CG6180;CG6180;Dmel\\CG6180;Dmel_CG6180", "protein_name": "", "disease": [ { "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 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"Q9VK64-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK64", "url": "https://www.uniprot.org/uniprotkb/Q9VK64" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 432, "chemical_mass": 47776.0, "gene_names": "Dmel\\CG17036;CG17036;Dmel\\CG17036;Dmel_CG17036", "protein_name": "Thiamine transporter 1", "disease": [ { "disease_id": "DOID:0050659", "name": "biotin-responsive basal ganglia disease", "description": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.", "url": "https://disease-ontology.org/term/DOID:0050659", "evidence": [ { "id": "0050659", "database": "AGR", "url": 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retraction syndrome", "description": "A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction.", "url": "https://disease-ontology.org/term/DOID:12557", "evidence": [ { "id": "12557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12557" } ], "weight": 0.0 }, { "disease_id": "DOID:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.", "url": "https://disease-ontology.org/term/DOID:1657", "evidence": [ { "id": "1657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ], "weight": 0.0 }, { "disease_id": "DOID:1911", "name": "endodermal sinus tumor", "description": "A germ cell cancer that has_material_basis_in 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It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection.", "url": "https://disease-ontology.org/term/DOID:2810", "evidence": [ { "id": "2810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2810" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "weight": 0.0 }, { "disease_id": "DOID:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "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": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein morphogenesis", "id": "GO:0008586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008586", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "antennal joint development", "id": "GO:0048098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048098", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "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": "Q9VKH3", "url": "https://www.uniprot.org/uniprotkb/Q9VKH3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKH3-1" }, { "uniprot_canonical_ac": "Q9VKI2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKI2", "url": "https://www.uniprot.org/uniprotkb/Q9VKI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 252, "chemical_mass": 26657.0, "gene_names": "Boh2;Boh2;CG4788;Dmel\\CG4788;Dmel_CG4788", "protein_name": "", "disease": [], "cellular_component": [ { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "Q9VKI2", "url": "https://www.uniprot.org/uniprotkb/Q9VKI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKI2-1" }, { "uniprot_canonical_ac": "Q9VKJ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 204, "chemical_mass": 22711.0, "gene_names": "Csl4;CG6249;CSL4;Csl4;Dmel\\CG6249;Dmel_CG6249;csl4;dCsl4", "protein_name": "", "disease": [ { "disease_id": "DOID:0112331", "name": "pontocerebellar hypoplasia type 1F", "description": "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.", "url": "https://disease-ontology.org/term/DOID:0112331", "evidence": [ { "id": "0112331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112331" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 }, { "disease_id": "DOID:11343", "name": "scleral disease", "description": "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball.", "url": "https://disease-ontology.org/term/DOID:11343", "evidence": [ { "id": "11343", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11343" } ], "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 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "nuclear exosome (RNase complex)", "id": "GO:0000176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000176", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "exosome (RNase complex)", "id": "GO:0000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000178", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA processing", "id": "GO:0006396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006396", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" }, { "name": "RNA catabolic process", "id": "GO:0006401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006401", "evidence": [ { "database": "UniProtKB", "id": "Q9VKJ4", "url": "https://www.uniprot.org/uniprotkb/Q9VKJ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKJ4-1" }, { "uniprot_canonical_ac": "Q9VKK5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 122, "chemical_mass": 13918.0, "gene_names": "AstC;ASC;AST-C;ASTC;Ast-C;Ast2;AstC;BEST:GH06087;BcDNA:RH36507;CG149199;CG14919;DAP-C;Dmel\\CG14919;Dmel_CG14919;Drm-AST-C;FLT;Flt;M-ASH;ast2;flt;gh06087", "protein_name": "", "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": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" }, { "name": "negative regulation of juvenile hormone biosynthetic process", "id": "GO:0045968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045968", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" }, { "name": "myoinhibitory hormone activity", "id": "GO:0016085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016085", "evidence": [ { "database": "UniProtKB", "id": "Q9VKK5", "url": "https://www.uniprot.org/uniprotkb/Q9VKK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKK5-1" }, { "uniprot_canonical_ac": "Q9VKK9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKK9", "url": "https://www.uniprot.org/uniprotkb/Q9VKK9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 127, "chemical_mass": 14564.0, "gene_names": "Dmel\\CG18666;CG18666;Dmel\\CG18666;Dmel_CG18666", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKK9-1" }, { "uniprot_canonical_ac": "Q9VKM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 677, "chemical_mass": 75681.0, "gene_names": "Tmem214;CG33129;CG6087;CG6089;Dmel\\CG33129;Dmel_CG33129;Tmem214;dTMEM214", "protein_name": "", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "Q9VKM7", "url": "https://www.uniprot.org/uniprotkb/Q9VKM7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKM7-1" }, { "uniprot_canonical_ac": "Q9VKQ2-1", "species": [ { 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10300", "name": "Raynaud disease", "description": "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress.", "url": "https://disease-ontology.org/term/DOID:10300", "evidence": [ { "id": "10300", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10300" } ], "weight": 0.0 }, { "disease_id": "DOID:10316", "name": "pneumoconiosis", "description": "An interstitial lung disease that is caused by the inhalation of dust.", "url": "https://disease-ontology.org/term/DOID:10316", "evidence": [ { "id": "10316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10316" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:1214", "name": "tympanosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1214", "evidence": [ { "id": "1214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1214" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. 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"url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VLL7-1" }, { "uniprot_canonical_ac": "Q9VLM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLM7", "url": "https://www.uniprot.org/uniprotkb/Q9VLM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 223, "chemical_mass": 25495.0, "gene_names": "Tmem126;2L11;CG13392;Dmel\\CG13392;dTMEM126B", "protein_name": "Transmembrane protein 126", "disease": [ { "disease_id": "DOID:0111437", "name": "optic atrophy 7", "description": "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.", "url": "https://disease-ontology.org/term/DOID:0111437", "evidence": [ { "id": "0111437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111437" } ], "weight": 0.0 }, { "disease_id": "DOID:0112084", "name": "nuclear type mitochondrial complex I deficiency 29", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.", "url": "https://disease-ontology.org/term/DOID:0112084", "evidence": [ { "id": "0112084", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112084" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM7", "url": "https://www.uniprot.org/uniprotkb/Q9VLM7" } ], "pmid": "" }, { "name": "mitochondrial complex I intermediate assembly complex", "id": "GO:0160295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160295", "evidence": [ { "database": 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"biomarkers": [], "sites": [], "record_id": "Q9VLR8-1" }, { "uniprot_canonical_ac": "Q9VLS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLS0", "url": "https://www.uniprot.org/uniprotkb/Q9VLS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 402, "chemical_mass": 45874.0, "gene_names": "Dmel\\CG8460;CG8460;Dmel\\CG8460;Dmel_CG8460", "protein_name": "Chitinase domain-containing protein 1", "disease": [], "molecular_function": [ { "name": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS0", "url": "https://www.uniprot.org/uniprotkb/Q9VLS0" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS0", "url": 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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: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:10113", "name": "trypanosomiasis", "description": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the 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levels of the amino acid glycine in bodily fluids and tissues.", "url": "https://disease-ontology.org/term/DOID:9268", "evidence": [ { "id": "9268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9268" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "neurotransmitter:sodium symporter activity", "id": "GO:0005328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005328", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": 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"https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q9VLY3", "url": "https://www.uniprot.org/uniprotkb/Q9VLY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLY3-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Thr268", "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": 268, "start_aa": "Thr", "end_pos": 268, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr268", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VLY3-1" }, { "uniprot_canonical_ac": "Q9VM10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM10", "url": "https://www.uniprot.org/uniprotkb/Q9VM10" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 563, "chemical_mass": 62907.0, "gene_names": "santa-maria;BEST:CK01577;CG12789;CK01577;Dmel\\CG12789;Dmel_CG12789;Santa Maria;santa maria;santa-maria", "protein_name": "", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016063", "evidence": [ { "database": "UniProtKB", "id": "Q9VM10", "url": "https://www.uniprot.org/uniprotkb/Q9VM10" } ], "pmid": "" }, { "name": "thermotaxis", "id": "GO:0043052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043052", "evidence": [ { "database": "UniProtKB", "id": "Q9VM10", "url": "https://www.uniprot.org/uniprotkb/Q9VM10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM10-1" }, { "uniprot_canonical_ac": "Q9VM11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM11", "url": "https://www.uniprot.org/uniprotkb/Q9VM11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 311, "chemical_mass": 36131.0, "gene_names": "Dmel\\CG5973;CG5973;Dmel\\CG5973;Dmel_CG5973", "protein_name": "CRAL-TRIO domain-containing protein", "disease": [], "molecular_function": [ { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q9VM11", "url": "https://www.uniprot.org/uniprotkb/Q9VM11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM11-1" }, { "uniprot_canonical_ac": "Q9VM20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 328, "chemical_mass": 36948.0, "gene_names": "Dmel\\CG5160;CG5160;Dmel\\CG5160;Dmel_CG5160", "protein_name": "small monomeric GTPase", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q9VM20", "url": "https://www.uniprot.org/uniprotkb/Q9VM20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM20-1" }, { "uniprot_canonical_ac": "Q9VM36-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 506, "chemical_mass": 53658.0, "gene_names": "Dmel\\CG4497;CG4497;Dmel\\CG4497;Dmel_CG4497", "protein_name": "Protein FAM122A", "disease": [], "molecular_function": [ { "name": "protein serine/threonine phosphatase inhibitor activity", "id": "GO:0004865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004865", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9VM36", "url": "https://www.uniprot.org/uniprotkb/Q9VM36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM36-1" }, { "uniprot_canonical_ac": "Q9VM58-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 323, "chemical_mass": 34173.0, "gene_names": "Hmgcl;145934_at;CG10399;Dmel\\CG10399;Dmel_CG10399;HMGCL;Hmgcl", "protein_name": "hydroxymethylglutaryl-CoA lyase", "disease": [ { "disease_id": "DOID:0070541", "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "description": "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.", "url": "https://disease-ontology.org/term/DOID:0070541", "evidence": [ { "id": "0070541", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070541" } ], "weight": 0.0 }, { "disease_id": "DOID:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" }, { "name": "hydroxymethylglutaryl-CoA lyase activity", "id": "GO:0004419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004419", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" } ], "biological_process": [ { "name": "ketone body biosynthetic process", "id": "GO:0046951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046951", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" }, { "name": "L-leucine catabolic process", "id": "GO:0006552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006552", "evidence": [ { "database": "UniProtKB", "id": "Q9VM58", "url": "https://www.uniprot.org/uniprotkb/Q9VM58" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM58-1" }, { "uniprot_canonical_ac": "Q9VM63-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 227, "chemical_mass": 26016.0, "gene_names": "Gas41;CG9207;Dmel\\CG9207;Dmel_CG9207;GAS41;Gas41;dGas41", "protein_name": "YEATS domain-containing protein 4", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "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": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "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": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated heterochromatin formation", "id": "GO:0031048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031048", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "protein localization to heterochromatin", "id": "GO:0097355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097355", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": "https://www.uniprot.org/uniprotkb/Q9VM63" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9VM63", "url": 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"Q9VM98-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM98", "url": "https://www.uniprot.org/uniprotkb/Q9VM98" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 475, "chemical_mass": 53680.0, "gene_names": "Dmel\\CG11327;CG11327;Dmel\\CG11327;Dmel_CG11327", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VM98-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Thr9", "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": 9, "start_aa": "Thr", "end_pos": 9, "end_aa": "Thr", 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"Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 619, "chemical_mass": 69815.0, "gene_names": "mtm;CG9115;Dmel\\CG9115;Dmel_CG9115;MTM1/R1/R2;MTM1;Mtm;R2;dMTMH1;mtm1;mtm", "protein_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "disease": [ { "disease_id": "DOID:0110191", "name": "Charcot-Marie-Tooth disease type 4B1", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).", "url": "https://disease-ontology.org/term/DOID:0110191", "evidence": [ { "id": "0110191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110191" } ], "weight": 0.0 }, { "disease_id": "DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of 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The nuclei are located in the center of the cell, instead of their normal location at the periphery.", "url": "https://disease-ontology.org/term/DOID:14717", "evidence": [ { "id": "14717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ], "weight": 0.0 }, { "disease_id": "DOID:422", "name": "congenital structural myopathy", "description": "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.", "url": "https://disease-ontology.org/term/DOID:422", "evidence": [ { "id": "422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:422" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "regulation of endocytic recycling", "id": "GO:2001135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001135", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "regulation of 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"https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "id": "GO:0052629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052629", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI9", "url": "https://www.uniprot.org/uniprotkb/Q9VMI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMI9-1" }, { "uniprot_canonical_ac": "Q9VMK8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMK8", "url": "https://www.uniprot.org/uniprotkb/Q9VMK8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 165, "chemical_mass": 19086.0, "gene_names": "Dmel\\CG13999;CG13999;Dmel\\CG13999;Dmel_CG13999", "protein_name": "Transmembrane protein 138", "disease": [ { "disease_id": "DOID:0110985", "name": "Joubert syndrome 16", "description": "A Joubert syndrome characterized by molar tooth sign on brain imaging, 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"id": "Q9VMK8", "url": "https://www.uniprot.org/uniprotkb/Q9VMK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMK8-1" }, { "uniprot_canonical_ac": "Q9VMM9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 711, "chemical_mass": 79685.0, "gene_names": "Dmel\\CG11147;CG11147;DmCG11147;Dmel\\CG11147;Dmel_CG11147", "protein_name": "", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VMM9", "url": "https://www.uniprot.org/uniprotkb/Q9VMM9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": 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fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 57098.0, "gene_names": "Dmel\\CG11149;CG11149;Dmel\\CG11149;Dmel_CG11149;dibeta3GnT4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VMN1", "url": "https://www.uniprot.org/uniprotkb/Q9VMN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q9VMN1", "url": "https://www.uniprot.org/uniprotkb/Q9VMN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMN1-1" }, { "uniprot_canonical_ac": "Q9VMP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP0", "url": "https://www.uniprot.org/uniprotkb/Q9VMP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 54994.0, "gene_names": "anon-WO0140519.54;CG18266;Dmel\\CG18266;Dmel_CG18266;anon-WO0140519.54", "protein_name": "Coiled-coil domain-containing protein", "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 } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMP0-1" }, { "uniprot_canonical_ac": "Q9VMP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 907, "chemical_mass": 104444.0, "gene_names": "GluRIIA;CG6992;D-GluRIIA;DGluR-IIA;DGluR-II;DGluR2a;DGluRIIA;DGluRIIa;DgluRII;DmelGluRIIA;Dmel\\CG6992;Dmel_CG6992;Glu-RIIA;Glu-RII;GluR-IIA;GluR2a;GluR2;GluRII-A;GluRIIA;GluRIIa;GluRII;GluR[[IIa]];GluR;GlurIIA;dGluRIIA;dGluRII;dglur-IIA;dglurIIA;gluIIA;gluRIIA;glurIIA;gluriia", "protein_name": "", "disease": [], "molecular_function": [ { "name": "glutamate-gated calcium ion channel activity", "id": "GO:0022849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022849", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "glutamate-gated receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "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": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "glutamate receptor activity", "id": "GO:0008066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008066", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "cellular_component": [ { "name": "ionotropic glutamate receptor complex", "id": "GO:0008328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008328", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "muscle cell postsynaptic specialization", "id": "GO:0097482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097482", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "biological_process": [ { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "regulation of synaptic activity", "id": "GO:0060025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060025", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" }, { "name": "positive regulation of neuromuscular synaptic transmission", "id": "GO:1900075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900075", "evidence": [ { "database": "UniProtKB", "id": "Q9VMP4", "url": "https://www.uniprot.org/uniprotkb/Q9VMP4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMP4-1" }, { "uniprot_canonical_ac": "Q9VMR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMR2", "url": "https://www.uniprot.org/uniprotkb/Q9VMR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 580, "chemical_mass": 62943.0, "gene_names": "mid;CG6634;Dmel\\CG6634;Dmel_CG6634;H15r/nmr2;H15r;H15;MID;Mid(H15);Mid;TBX20;extra;los;mid;nmr2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0110109", "name": "atrial heart septal defect 4", "description": "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.", "url": "https://disease-ontology.org/term/DOID:0110109", "evidence": [ { "id": "0110109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110109" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is 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}, { "uniprot_canonical_ac": "Q9VMR9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMR9", "url": "https://www.uniprot.org/uniprotkb/Q9VMR9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 101, "chemical_mass": 11390.0, "gene_names": "BcDNA:RH62365;BcDNA:RH62365;CG14022;Dmel\\CG14022;Dmel_CG14022", "protein_name": "acylphosphatase", "disease": [], "molecular_function": [ { "name": "acylphosphatase activity", "id": "GO:0003998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003998", "evidence": [ { "database": "UniProtKB", "id": "Q9VMR9", "url": "https://www.uniprot.org/uniprotkb/Q9VMR9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMR9-1" }, { "uniprot_canonical_ac": "Q9VMS3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"database": "UniProtKB", "id": "Q9VPE2", "url": "https://www.uniprot.org/uniprotkb/Q9VPE2" } ], "pmid": "" }, { "name": "ubiquinone biosynthetic process", "id": "GO:0006744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006744", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE2", "url": "https://www.uniprot.org/uniprotkb/Q9VPE2" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE2", "url": "https://www.uniprot.org/uniprotkb/Q9VPE2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPE2-1" }, { "uniprot_canonical_ac": "Q9VPE8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPE8", "url": "https://www.uniprot.org/uniprotkb/Q9VPE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 367, "chemical_mass": 41729.0, "gene_names": "Tdh;CG5955;Dmel\\CG5955;Dmel_CG5955;Tdh", "protein_name": "L-threonine 3-dehydrogenase, mitochondrial", "disease": [], "biological_process": [ { "name": "L-threonine catabolic process to glycine", "id": "GO:0019518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019518", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE8", "url": "https://www.uniprot.org/uniprotkb/Q9VPE8" } ], "pmid": "" }, { "name": "L-threonine catabolic process", "id": "GO:0006567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006567", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE8", "url": "https://www.uniprot.org/uniprotkb/Q9VPE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE8", "url": "https://www.uniprot.org/uniprotkb/Q9VPE8" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-threonine 3-dehydrogenase activity", "id": "GO:0008743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008743", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE8", "url": "https://www.uniprot.org/uniprotkb/Q9VPE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPE8-1" }, { "uniprot_canonical_ac": "Q9VPE9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 399, "chemical_mass": 44876.0, "gene_names": "mag;CG5932;Dmel\\CG5932;Dmel_CG5932;Magro;Mag;lipA;mag", "protein_name": "Lipase", "disease": [ { "disease_id": "DOID:0080217", "name": "lysosomal acid lipase deficiency", "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.", "url": "https://disease-ontology.org/term/DOID:0080217", "evidence": [ { "id": "0080217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080217" } ], "weight": 0.0 }, { "disease_id": "DOID:14497", "name": "Wolman disease", "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. 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"biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE9", "url": "https://www.uniprot.org/uniprotkb/Q9VPE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPE9-1" }, { "uniprot_canonical_ac": "Q9VPF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPF6", "url": "https://www.uniprot.org/uniprotkb/Q9VPF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 286, "chemical_mass": 32634.0, "gene_names": "mRpL15;CG5219;Dmel\\CG5219;Dmel_CG5219;L15;l(3)77CDc;mRpL15", "protein_name": "Large ribosomal subunit protein uL15m", "disease": [ { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF6", "url": "https://www.uniprot.org/uniprotkb/Q9VPF6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VPF6-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Thr7", "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": 7, "start_aa": "Thr", "end_pos": 7, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr7", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VPF6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VPF6" } ] } ] }, { 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"evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "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: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. 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"id": "Q9VPI9", "url": "https://www.uniprot.org/uniprotkb/Q9VPI9" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9VPI9", "url": "https://www.uniprot.org/uniprotkb/Q9VPI9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VPI9-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Thr1108", "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": 1108, "start_aa": "Thr", "end_pos": 1108, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1108", "evidence": [ { "id": 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"url": "https://www.uniprot.org/uniprotkb/Q9VPX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPX8-1" }, { "uniprot_canonical_ac": "Q9VPZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPZ5", "url": "https://www.uniprot.org/uniprotkb/Q9VPZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 665, "chemical_mass": 70935.0, "gene_names": "CT16527;CG5397;CT16527;Dmel\\CG5397;Dmel_CG5397", "protein_name": "Carboxylesterase type B domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPZ5-1" }, { "uniprot_canonical_ac": "Q9VQ02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ02", "url": "https://www.uniprot.org/uniprotkb/Q9VQ02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 305, "chemical_mass": 34465.0, "gene_names": "Dmel\\CG5561;CG5561;Dmel\\CG5561;Dmel_CG5561", "protein_name": "Pseudouridine-5'-phosphatase", "disease": [], "molecular_function": [ { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ02", "url": "https://www.uniprot.org/uniprotkb/Q9VQ02" } ], "pmid": "" }, { "name": "pseudouridine 5'-phosphatase activity", "id": "GO:1990738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990738", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ02", "url": "https://www.uniprot.org/uniprotkb/Q9VQ02" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ02-1" }, { "uniprot_canonical_ac": "Q9VQ27-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ27", "url": "https://www.uniprot.org/uniprotkb/Q9VQ27" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 251, "chemical_mass": 28993.0, "gene_names": "Dmel\\CG14352;CG14352;Dmel\\CG14352;Dmel_CG14352", "protein_name": "Regulatory protein zeste", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ27", "url": "https://www.uniprot.org/uniprotkb/Q9VQ27" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ27", "url": "https://www.uniprot.org/uniprotkb/Q9VQ27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ27-1" }, { "uniprot_canonical_ac": "Q9VQ43-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ43", "url": "https://www.uniprot.org/uniprotkb/Q9VQ43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 128, "chemical_mass": 13627.0, "gene_names": "BcDNA:GH02930;BcDNA:GH02930;CG17648;Dmel\\CG17648;Dmel_CG17648", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ43-1" }, { "uniprot_canonical_ac": "Q9VQ60-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ60", "url": "https://www.uniprot.org/uniprotkb/Q9VQ60" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 637, "chemical_mass": 72434.0, "gene_names": "Dmel\\CG7289;CG7289;Dmel\\CG7289;Dmel_CG7289", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ60", "url": "https://www.uniprot.org/uniprotkb/Q9VQ60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ60-1" }, { "uniprot_canonical_ac": "Q9VQ95-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 337, "chemical_mass": 38705.0, "gene_names": "Tengl3;CG17006;CG31679;Dmel\\CG31679;Dmel_CG31679;Tengl3", "protein_name": "", "disease": [ { "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: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "RNA endonuclease activity", "id": "GO:0004521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004521", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" }, { "name": "single-stranded DNA endodeoxyribonuclease activity", "id": "GO:0000014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000014", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ95", "url": "https://www.uniprot.org/uniprotkb/Q9VQ95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ95-1" }, { "uniprot_canonical_ac": "Q9VQB6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 971, "chemical_mass": 104206.0, "gene_names": "Atxn7;Ataxin7;Atxn7;CG9866;Dmel\\CG9866;ataxin-7;dATXN7", "protein_name": "Ataxin-7", "disease": [ { "disease_id": "DOID:0050958", "name": "spinocerebellar ataxia 7", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.", "url": "https://disease-ontology.org/term/DOID:0050958", "evidence": [ { "id": "0050958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050958" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" }, { "name": "SAGA complex assembly", "id": "GO:0036285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036285", "evidence": [ { "database": "UniProtKB", "id": "Q9VQB6", "url": "https://www.uniprot.org/uniprotkb/Q9VQB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQB6-1" }, { "uniprot_canonical_ac": "Q9VQC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 369, "chemical_mass": 41108.0, "gene_names": "Dmel\\CG18641;CG11535;CG18641;Dmel\\CG18641;Dmel_CG18641", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC2", "url": "https://www.uniprot.org/uniprotkb/Q9VQC2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQC2-1" }, { "uniprot_canonical_ac": "Q9VQD1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQD1", "url": "https://www.uniprot.org/uniprotkb/Q9VQD1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 44770.0, "gene_names": "Dmel\\CG3515;CG3515;Dmel\\CG3515;Dmel_CG3515", "protein_name": "WD repeat-containing protein 82", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD1", "url": "https://www.uniprot.org/uniprotkb/Q9VQD1" } ], "pmid": "" } ], "cellular_component": [ { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD1", "url": "https://www.uniprot.org/uniprotkb/Q9VQD1" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA metabolic process", "id": "GO:0016070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016070", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD1", "url": "https://www.uniprot.org/uniprotkb/Q9VQD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQD1-1" }, { "uniprot_canonical_ac": "Q9VQD8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 151, "chemical_mass": 16669.0, "gene_names": "Arpc5;ARPC5;ArpC5;Arpc5;CG9881;Dmel\\CG9881;Dmel_CG9881;P16-ARC;p16-ARC;p16-arc;p16", "protein_name": "Actin-related protein 2/3 complex subunit 5", "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:0051056", "name": "immunodeficiency 113", "description": "A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.", "url": "https://disease-ontology.org/term/DOID:0051056", "evidence": [ { "id": "0051056", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051056" } ], "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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "Arp2/3 protein complex", "id": "GO:0005885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005885", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "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": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q9VQD8", "url": "https://www.uniprot.org/uniprotkb/Q9VQD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQD8-1" }, { "uniprot_canonical_ac": "Q9VQE0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 735, "chemical_mass": 82566.0, "gene_names": "Drp1;CG3210;DNM1L;DRP1;DRP;Dmel\\CG3210;Dmel_CG3210;Dnm1/Drp1;Drp-1;Drp1;Drp;drp-1;drp1;drp;frat;l(2)22Fc;l(2)22Fd;l(2)ND2;l(2)ND3", "protein_name": "dynamin GTPase", "disease": [ { "disease_id": "DOID:0070347", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.", "url": "https://disease-ontology.org/term/DOID:0070347", "evidence": [ { "id": "0070347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070347" } ], "weight": 0.0 }, { "disease_id": "DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).", "url": "https://disease-ontology.org/term/DOID:0110197", "evidence": [ { "id": "0110197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ], "weight": 0.0 }, { "disease_id": "DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0111223", "evidence": [ { "id": "0111223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111223" } ], "weight": 0.0 }, { "disease_id": "DOID:0111438", "name": "optic atrophy 5", "description": "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.", "url": "https://disease-ontology.org/term/DOID:0111438", "evidence": [ { "id": "0111438", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111438" } ], "weight": 0.0 }, { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "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:11252", "name": "microcytic anemia", "description": "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.", "url": "https://disease-ontology.org/term/DOID:11252", "evidence": [ { "id": "11252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11252" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13711", "name": "dental fluorosis", "description": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.", "url": "https://disease-ontology.org/term/DOID:13711", "evidence": [ { "id": "13711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13711" } ], "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:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.", "url": "https://disease-ontology.org/term/DOID:2476", "evidence": [ { "id": "2476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ], "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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "lymph gland crystal cell differentiation", "id": "GO:0035170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035170", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9VQE0", "url": "https://www.uniprot.org/uniprotkb/Q9VQE0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24738.0, "gene_names": "Dmel\\CG9643;CG9643;Dmel\\CG9643;Dmel_CG9643;METTL10", "protein_name": "Protein-lysine N-methyltransferase CG9643", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9VQJ8", "url": "https://www.uniprot.org/uniprotkb/Q9VQJ8" } ], "pmid": "" } ], 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{ "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ5", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQQ5-1" }, { "uniprot_canonical_ac": "Q9VQR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQR2", "url": "https://www.uniprot.org/uniprotkb/Q9VQR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 159, "chemical_mass": 18918.0, "gene_names": "ND-PDSW;BcDNA:RE65754;CG8844;Dmel\\CG8844;Dmel_CG8844;ND-PDSW;NDUFB10;NIDM;PDSW;Pdsw;Q9VQR2;anon-EST:Posey91;dNDUFB10;l(2)k10101;mito;pdsw", "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10", "disease": [ { "disease_id": "DOID:0112139", "name": "nuclear 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQT6", "url": "https://www.uniprot.org/uniprotkb/Q9VQT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 9491.0, "gene_names": "Dmel\\CG3513;CG3513;Dmel\\CG3513;Dmel_CG3513", "protein_name": "BPTI/Kunitz inhibitor domain-containing protein", "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": "Q9VQT6", "url": "https://www.uniprot.org/uniprotkb/Q9VQT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQT6-1" }, { "uniprot_canonical_ac": "Q9VQU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 282, "chemical_mass": 32320.0, "gene_names": "lectin-24A;AC 005149A;AC005149a;CG3410;Dmel\\CG3410;Dmel_CG3410;Lectin-24A;lectin-24A", "protein_name": "", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "induction of bacterial agglutination", "id": "GO:0043152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043152", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "Q9VQU4", "url": "https://www.uniprot.org/uniprotkb/Q9VQU4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQU4-1" }, { "uniprot_canonical_ac": "Q9VQW4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQW4", "url": "https://www.uniprot.org/uniprotkb/Q9VQW4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 104, "chemical_mass": 11979.0, "gene_names": "Dmel\\CG15422;CG15422;Dmel\\CG15422;Dmel_CG15422", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQW4-1" }, { "uniprot_canonical_ac": "Q9VQW5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQW5", "url": "https://www.uniprot.org/uniprotkb/Q9VQW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 107, "chemical_mass": 12275.0, "gene_names": "Dmel\\CG15423;CG15423;Dmel\\CG15423;Dmel_CG15423", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQW5-1" }, { "uniprot_canonical_ac": "Q9VQX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 359, "chemical_mass": 41546.0, "gene_names": "lectin-24Db;AC 004371A;AC004371a;CG2958;Dmel\\CG2958;Dmel_CG2958;Lectin 24Db;lectin-24Db", "protein_name": "", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "fucose binding", "id": "GO:0042806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042806", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" }, { "name": "glycosylated region protein binding", "id": "GO:0140081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140081", "evidence": [ { "database": "UniProtKB", "id": "Q9VQX3", "url": "https://www.uniprot.org/uniprotkb/Q9VQX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQX3-1" }, { "uniprot_canonical_ac": "Q9VR05-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 40502.0, "gene_names": "Paris;CG15436;Dmel\\CG15436;Paris;dPARIS", "protein_name": "Zinc finger protein Paris", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "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": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "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": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "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": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q9VR05", "url": "https://www.uniprot.org/uniprotkb/Q9VR05" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR05-1" }, { "uniprot_canonical_ac": "Q9VR20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 495, "chemical_mass": 57417.0, "gene_names": "CG3251;Dmel\\CG3251", "protein_name": "OTU domain-containing protein CG3251", "disease": [], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" } ], "molecular_function": [ { "name": "K63-linked deubiquitinase activity", "id": "GO:0061578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061578", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" }, { "name": "deubiquitinase activity", "id": "GO:0101005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101005", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VR20-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Does not rescue in vitro deubiquitinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VR20", "url": "https://www.uniprot.org/uniprotkb/Q9VR20" }, { "database": "PubMed", "id": "26588485", "url": "https://glygen.org/publication/PubMed/26588485" } ] } ] } ], "record_id": "Q9VR20-1" }, { "uniprot_canonical_ac": "Q9VR21-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR21", "url": "https://www.uniprot.org/uniprotkb/Q9VR21" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 138, "chemical_mass": 15438.0, "gene_names": "Taf12L;CG15632;Dmel\\CG15632;Dmel_CG15632;Rye;TAF12L;TAF30alpha-2;TAF[[II]];TAF;TFIID;Taf12L;Taf30alpha-2;dTAF12L;dTAF12;dTAF[[II]]30alpha-2;dTAF[[II]]30a;dmTAF12L;dmTAF12b;rye", "protein_name": "Transcription initiation factor TFIID subunit 12", "disease": [], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9VR21", "url": "https://www.uniprot.org/uniprotkb/Q9VR21" } ], "pmid": "" } ], "cellular_component": [ { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "Q9VR21", "url": "https://www.uniprot.org/uniprotkb/Q9VR21" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "Q9VR21", "url": "https://www.uniprot.org/uniprotkb/Q9VR21" } ], "pmid": "" } ], "biological_process": [ { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q9VR21", "url": "https://www.uniprot.org/uniprotkb/Q9VR21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR21-1" }, { "uniprot_canonical_ac": "Q9VR30-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR30", "url": "https://www.uniprot.org/uniprotkb/Q9VR30" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 364, "chemical_mass": 41957.0, "gene_names": "anon-WO02059370.23;CG15628;Dmel\\CG15628;Dmel_CG15628;anon-WO02059370.23", "protein_name": "N-acetyltransferase domain-containing protein", "disease": [], "molecular_function": [ { "name": "glycine N-acyltransferase activity", "id": "GO:0047961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047961", "evidence": [ { "database": "UniProtKB", "id": "Q9VR30", "url": "https://www.uniprot.org/uniprotkb/Q9VR30" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR30-1" }, { "uniprot_canonical_ac": "Q9VR33-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR33", "url": "https://www.uniprot.org/uniprotkb/Q9VR33" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 497, "chemical_mass": 56797.0, "gene_names": "tank;CG15626;Dmel\\CG15626;Dmel_CG15626;tank", "protein_name": "", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VR33", "url": "https://www.uniprot.org/uniprotkb/Q9VR33" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR33", "url": "https://www.uniprot.org/uniprotkb/Q9VR33" } ], "pmid": "" } ], "biological_process": [ { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q9VR33", "url": "https://www.uniprot.org/uniprotkb/Q9VR33" } ], "pmid": "" }, { "name": "positive regulation of response to ethanol", "id": "GO:1901418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901418", "evidence": [ { "database": "UniProtKB", "id": "Q9VR33", "url": "https://www.uniprot.org/uniprotkb/Q9VR33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR33-1" }, { "uniprot_canonical_ac": "Q9VR42-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 603, "chemical_mass": 69278.0, "gene_names": "Dmel\\CG3008;CG3008;Dmel\\CG3008;Dmel_CG3008", "protein_name": "Serine/threonine-protein kinase RIO3", "disease": [], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" }, { "name": "preribosome, small subunit precursor", "id": "GO:0030688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030688", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030490", "evidence": [ { "database": "UniProtKB", "id": "Q9VR42", "url": "https://www.uniprot.org/uniprotkb/Q9VR42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR42-1" }, { "uniprot_canonical_ac": "Q9VR64-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 530, "chemical_mass": 58080.0, "gene_names": "Cluap1;CG17599;CLUAP1;Cluap1;Dmel\\CG17599;Dmel_CG17599", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "pmid": "" }, { "name": "microtubule organizing center", "id": "GO:0005815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005815", "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "pmid": "" }, { "name": "intraciliary retrograde transport", "id": "GO:0035721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035721", "evidence": [ { "database": "UniProtKB", "id": "Q9VR64", "url": "https://www.uniprot.org/uniprotkb/Q9VR64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VR64-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Thr98", "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": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VR64-1" }, { "uniprot_canonical_ac": "Q9VR69-1", "species": [ { "name": "Drosophila melanogaster", 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"GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9VR69", "url": "https://www.uniprot.org/uniprotkb/Q9VR69" } ], "pmid": "" } ], "cellular_component": [ { "name": "perivitelline space", "id": "GO:0098595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098595", "evidence": [ { "database": "UniProtKB", "id": "Q9VR69", "url": "https://www.uniprot.org/uniprotkb/Q9VR69" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR69-1" }, { "uniprot_canonical_ac": "Q9VR70-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR70", "url": "https://www.uniprot.org/uniprotkb/Q9VR70" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 709, "chemical_mass": 77254.0, "gene_names": "Dmel\\CG12446;CG12446;Dmel\\CG12446;Dmel_CG12446", "protein_name": "", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035151", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" }, { "name": "structural constituent of chitin-based cuticle", "id": "GO:0005214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005214", "evidence": [ { "database": "UniProtKB", "id": "Q9VR79", "url": "https://www.uniprot.org/uniprotkb/Q9VR79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR79-1" }, { "uniprot_canonical_ac": "Q9VR83-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR83", "url": "https://www.uniprot.org/uniprotkb/Q9VR83" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 425, "chemical_mass": 46674.0, "gene_names": "CT3673;1504;CG1504;CT3673;Dmel\\CG1504;Dmel_CG1504", "protein_name": "Chondroadherin", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VR83", "url": "https://www.uniprot.org/uniprotkb/Q9VR83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR83-1" }, { "uniprot_canonical_ac": "Q9VRA5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRA5", "url": "https://www.uniprot.org/uniprotkb/Q9VRA5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 58, "chemical_mass": 6643.0, "gene_names": "Dmel\\CG15461;CG15461;Dmel\\CG15461;Dmel_CG15461", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRA5-1" }, { "uniprot_canonical_ac": "Q9VRG3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1695, "chemical_mass": 194190.0, "gene_names": "Dmel\\CG1494;CG1494;DmCG1494;Dmel\\CG1494;Dmel_CG1494", "protein_name": "ABC transporter domain-containing protein", "disease": [], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VRG3", "url": "https://www.uniprot.org/uniprotkb/Q9VRG3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRG3-1" }, { "uniprot_canonical_ac": "Q9VRI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRI1", "url": "https://www.uniprot.org/uniprotkb/Q9VRI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 85, "chemical_mass": 8360.0, "gene_names": "whe;BcDNA:GH04760;CG1678;Dmel\\CG1678;Dmel_CG1678;whe", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRI1-1" }, { "uniprot_canonical_ac": "Q9VRL0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 307, "chemical_mass": 33764.0, "gene_names": "Cyt-c1;CG4769;CY1;Cyc1;Cyt-c1;Dmel\\CG4769;Dmel_CG4769;anon-EST:Posey141", "protein_name": "Cytochrome c1, heme protein, mitochondrial", "disease": [ { "disease_id": "DOID:0080115", "name": "mitochondrial complex III deficiency nuclear type 6", "description": "A mitochondrial complex III 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electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL0", "url": "https://www.uniprot.org/uniprotkb/Q9VRL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRL0-1" }, { "uniprot_canonical_ac": "Q9VRL8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 324, "chemical_mass": 35625.0, "gene_names": "blanks;Blanks;CG10630;Dmel\\CG10630;Dmel_CG10630;blanks;lump", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "RISC complex", "id": "GO:0016442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016442", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "RISC-loading complex", "id": "GO:0070578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070578", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL8", "url": "https://www.uniprot.org/uniprotkb/Q9VRL8" } ], "pmid": "" } ], 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"chemical_mass": 58141.0, "gene_names": "Alp10;Alp10;CG10592;Dmel\\CG10592;Dmel_CG10592", "protein_name": "alkaline phosphatase", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0110913", "name": "adult hypophosphatasia", "description": "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:0110913", "evidence": [ { "id": "0110913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110913" } ], "weight": 0.0 }, { "disease_id": "DOID:0110914", "name": "infantile hypophosphatasia", "description": "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110914", "evidence": [ { "id": "0110914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110914" } ], "weight": 0.0 }, { "disease_id": "DOID:0110915", "name": "childhood hypophosphatasia", "description": "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:0110915", "evidence": [ { "id": "0110915", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110915" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": 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{ "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 465, "chemical_mass": 50511.0, "gene_names": "Prdm13;CG13296;Dmel\\CG13296;Dmel_CG13296;PRDM13;Prdm13", "protein_name": "", "disease": [ { "disease_id": "DOID:0060264", "name": "pontocerebellar hypoplasia", "description": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.", "url": "https://disease-ontology.org/term/DOID:0060264", "evidence": [ { "id": "0060264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060264" } ], "weight": 0.0 }, { "disease_id": "DOID:0070439", "name": "North Carolina macular dystrophy", "description": "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe 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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": "Q9VRV0", "url": "https://www.uniprot.org/uniprotkb/Q9VRV0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VRV0-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Thr95", "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": 95, "start_aa": "Thr", "end_pos": 95, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr95", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VRV0-1" }, { 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"https://www.uniprot.org/uniprotkb/Q9VS10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS10-1" }, { "uniprot_canonical_ac": "Q9VS21-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS21", "url": "https://www.uniprot.org/uniprotkb/Q9VS21" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 82, "chemical_mass": 9695.0, "gene_names": "Acbp6;ACBP;Acbp6;CG15829;DmCG15829;Dmel\\CG15829;Dmel_CG15829", "protein_name": "", "disease": [], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9VS21", "url": "https://www.uniprot.org/uniprotkb/Q9VS21" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": 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"record_id": "Q9VSA9-1" }, { "uniprot_canonical_ac": "Q9VSD3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSD3", "url": "https://www.uniprot.org/uniprotkb/Q9VSD3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 218, "chemical_mass": 24591.0, "gene_names": "fan;CG7919;Dmel\\CG7919;Dmel_CG7919;FAN;dVAP-C;fan", "protein_name": "", "disease": [ { "disease_id": "DOID:0050752", "name": "amyotrophic lateral sclerosis type 8", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.", "url": "https://disease-ontology.org/term/DOID:0050752", "evidence": [ { "id": "0050752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050752" } ], "weight": 0.0 }, { "disease_id": "DOID:0111194", "name": "autosomal dominant adult-onset proximal spinal muscular atrophy", 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"GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q9VSD3", "url": "https://www.uniprot.org/uniprotkb/Q9VSD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSD3-1" }, { "uniprot_canonical_ac": "Q9VSD6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSD6", "url": "https://www.uniprot.org/uniprotkb/Q9VSD6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1049, "chemical_mass": 119311.0, "gene_names": "msk;61;8;CG7935;CIP-61;DIM-7;Dim-7;Dim7;DmRanBP7;Dmel\\CG7935;Dmel_CG7935;Imp 7;Imp7/8;Imp7;Msk;S(ls)2;dim-7;dim7;msk", "protein_name": "", "disease": [], "molecular_function": [ { "name": "U4 snRNA binding", "id": "GO:0030621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030621", "evidence": [ { "database": "UniProtKB", "id": 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 113, "chemical_mass": 12971.0, "gene_names": "Irbp18;BCAT1;BcDNA:GH10915;CG6272;CT19628;DM10;Dmel\\CG6272;Dmel_CG6272;IRBP18;Irbp18", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" }, { "name": "DNA repair complex", "id": "GO:1990391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990391", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "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": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "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": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" }, { "name": "P-element binding", "id": "GO:0003693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003693", "evidence": [ { "database": "UniProtKB", "id": "Q9VTE8", "url": "https://www.uniprot.org/uniprotkb/Q9VTE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTE8-1" }, { "uniprot_canonical_ac": "Q9VTG0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 667, "chemical_mass": 71814.0, "gene_names": "NaPi-III;CG42575;CG7628;CR32078;Dmel\\CG42575;Dmel_CG42575;Dromel_CG7628_FBtr0076213_mORF;NaPi-III;dPiT;dPit", "protein_name": "Phosphate transporter", "disease": [ { "disease_id": "DOID:0060230", "name": "basal ganglia calcification", "description": "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.", "url": "https://disease-ontology.org/term/DOID:0060230", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphate transmembrane transporter activity", "id": "GO:0005315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005315", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" }, { "name": "sodium:phosphate symporter activity", "id": "GO:0005436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005436", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" } ], "biological_process": [ { "name": "phosphate ion transmembrane transport", "id": "GO:0035435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035435", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" }, { "name": "sodium-dependent phosphate transport", "id": "GO:0044341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044341", "evidence": [ { "database": "UniProtKB", "id": "Q9VTG0", "url": "https://www.uniprot.org/uniprotkb/Q9VTG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTG0-1" }, { "uniprot_canonical_ac": "Q9VTH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 428, "chemical_mass": 48535.0, "gene_names": "Dmel\\CG6163;CG6163;Dmel\\CG6163;Dmel_CG6163", "protein_name": "MADF domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9VTH8", "url": "https://www.uniprot.org/uniprotkb/Q9VTH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTH8-1" }, { "uniprot_canonical_ac": "Q9VTI0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTI0", "url": "https://www.uniprot.org/uniprotkb/Q9VTI0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 349, "chemical_mass": 39370.0, "gene_names": "Dmel\\CG7560;BEST:GH18008;CG7560;Dmel\\CG7560;Dmel_CG7560;gh18008", "protein_name": "Methylenetetrahydrofolate reductase-like catalytic domain-containing protein", "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:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0060770", "name": "dextro-looped transposition of the great arteries", "description": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0060770", "evidence": [ { "id": "0060770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060770" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080177", "name": "hepatic veno-occlusive disease", "description": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.", "url": "https://disease-ontology.org/term/DOID:0080177", "evidence": [ { "id": "0080177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080177" } ], "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:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.", "url": "https://disease-ontology.org/term/DOID:10024", "evidence": [ { "id": "10024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID: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:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.", "url": "https://disease-ontology.org/term/DOID:8736", "evidence": [ { "id": "8736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8736" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "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:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "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: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:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "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: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 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": 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"description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.", "url": "https://disease-ontology.org/term/DOID:0060201", "evidence": [ { "id": "0060201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060201" } ], "weight": 0.0 }, { "disease_id": "DOID:0060672", "name": "frontotemporal dementia 2", "description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "url": "https://disease-ontology.org/term/DOID:0060672", "evidence": [ { "id": "0060672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060672" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr769", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVC6-1" }, { "uniprot_canonical_ac": "Q9VVG0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1820, "chemical_mass": 200998.0, "gene_names": "Cad74A;CG6445;CT20086;Cad74A;Cad74B;DCad74B;Dmel\\CG6445;Dmel_CG6445;cad74A", "protein_name": "", "disease": [ { "disease_id": "DOID:0111021", "name": "cone-rod dystrophy 15", "description": "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23.", "url": "https://disease-ontology.org/term/DOID:0111021", "evidence": [ { "id": "0111021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111021" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by cadherin", "id": "GO:0044331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044331", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG0", "url": "https://www.uniprot.org/uniprotkb/Q9VVG0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVG0-1", "start_pos": "1523", "end_pos": "1523", "site_lbl": "Thr1523", "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": 1523, "start_aa": "Thr", "end_pos": 1523, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1523", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVG0-1" }, { "uniprot_canonical_ac": "Q9VVH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 571, "chemical_mass": 65508.0, "gene_names": "Pykl4;CG12229;Dmel\\CG12229;Dmel_CG12229", "protein_name": "Pyruvate kinase C-terminal domain-containing protein", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "potassium ion binding", "id": "GO:0030955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030955", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "biological_process": [ { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH0", "url": "https://www.uniprot.org/uniprotkb/Q9VVH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVH0-1" }, { "uniprot_canonical_ac": "Q9VVJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 412, "chemical_mass": 46152.0, "gene_names": "Pgr;BcDNA:GH27361;CG7497;CHED-related;Dmel\\CG7497;Dmel_CG7497;anon-WO0170980.88;anon-WO0170980.89", "protein_name": "G-protein coupled receptors family 1 profile domain-containing protein", "disease": [ { "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:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "prostaglandin E receptor activity", "id": "GO:0004957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004957", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" }, { "name": "prostaglandin D receptor activity", "id": "GO:0004956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004956", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVJ1-1" }, { "uniprot_canonical_ac": "Q9VVK5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 553, "chemical_mass": 62825.0, "gene_names": "Adgf-A;ADGDF-A;ADGF-A;ADGF;Adgf-A;Adgf-a;AdgfA;CG5992;Dmel\\CG5992;Dmel_CG5992;adgf-a;adgfa", "protein_name": "Adenosine deaminase", "disease": [ { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:13096", "name": "Sneddon syndrome", "description": "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.", "url": "https://disease-ontology.org/term/DOID:13096", "evidence": [ { "id": "13096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13096" } ], "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 } ], "biological_process": [ { "name": "regulation of carbohydrate metabolic process", "id": "GO:0006109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006109", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "adenosine catabolic process", "id": "GO:0006154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006154", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "inosine biosynthetic process", "id": "GO:0046103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046103", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "cellular response to sucrose starvation", "id": "GO:0043617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043617", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "hemocyte differentiation", "id": "GO:0042386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042386", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" } ], "molecular_function": [ { "name": "adenosine deaminase activity", "id": "GO:0004000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004000", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK5", "url": "https://www.uniprot.org/uniprotkb/Q9VVK5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVK5-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Thr62", "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": 62, "start_aa": "Thr", "end_pos": 62, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr62", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVK5-1" }, { "uniprot_canonical_ac": "Q9VVL0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 422, "chemical_mass": 47599.0, "gene_names": "Cln3;CG5582;CLN3;Cln3;Dmel\\CG5582;Dmel_CG5582;cln3", "protein_name": "Battenin", "disease": [ { "disease_id": "DOID:0110721", "name": "neuronal ceroid lipofuscinosis 1", "description": "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.", "url": "https://disease-ontology.org/term/DOID:0110721", "evidence": [ { "id": "0110721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110721" } ], "weight": 0.0 }, { "disease_id": "DOID:0110731", "name": "neuronal ceroid lipofuscinosis 3", "description": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.", "url": "https://disease-ontology.org/term/DOID:0110731", "evidence": [ { "id": "0110731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110731" } ], "weight": 0.0 }, { "disease_id": "DOID:14503", "name": "neuronal ceroid lipofuscinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14503", "evidence": [ { "id": "14503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14503" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "regulation of JNK cascade", "id": "GO:0046328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046328", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VVL0", "url": "https://www.uniprot.org/uniprotkb/Q9VVL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVL0-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Thr20", "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": 20, "start_aa": "Thr", "end_pos": 20, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr20", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVL0-1" }, { "uniprot_canonical_ac": "Q9VVM1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVM1", "url": "https://www.uniprot.org/uniprotkb/Q9VVM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 585, "chemical_mass": 65517.0, "gene_names": "Dmel\\CG7408;CG7408;Dmel\\CG7408;Dmel_CG7408", "protein_name": "Sulfatase N-terminal domain-containing protein", "disease": [ { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VVM1", 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"id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "Elg1 RFC-like complex", "id": "GO:0031391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031391", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" }, { "name": "DNA replication factor C complex", "id": "GO:0005663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005663", "evidence": [ { "database": "UniProtKB", "id": "Q9VX15", "url": "https://www.uniprot.org/uniprotkb/Q9VX15" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VX15-1" }, { "uniprot_canonical_ac": "Q9VX49-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX49", "url": "https://www.uniprot.org/uniprotkb/Q9VX49" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 759, "chemical_mass": 84990.0, "gene_names": "Dmel\\CG8568;CG8568;Dmel\\CG8568;Dmel_CG8568", "protein_name": "DUF4773 domain-containing protein", 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}, { "uniprot_canonical_ac": "Q9VX69-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX69", "url": "https://www.uniprot.org/uniprotkb/Q9VX69" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 411, "chemical_mass": 44427.0, "gene_names": "Dmel\\CG5162;CG5162;Dmel\\CG5162;Dmel_CG5162", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", 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}, { "uniprot_canonical_ac": "Q9VX70-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX70", "url": "https://www.uniprot.org/uniprotkb/Q9VX70" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 468, "chemical_mass": 51167.0, "gene_names": "CT41369;CG18258;CT41369;Dmel\\CG18258;Dmel_CG18258;anon-SAGE:Wang-051", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the 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"GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VXA9", "url": "https://www.uniprot.org/uniprotkb/Q9VXA9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXA9-1" }, { "uniprot_canonical_ac": "Q9VXB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXB4", "url": "https://www.uniprot.org/uniprotkb/Q9VXB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 403, "chemical_mass": 46615.0, "gene_names": "Dmel\\CG9609;CG9609;Dmel\\CG9609;Dmel_CG9609", "protein_name": "C2H2-type domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VXB4", "url": 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"https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VXC5-1" }, { "uniprot_canonical_ac": "Q9VXC8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 26336.0, "gene_names": "sphe;CG9675;Dmel\\CG9675;Dmel_CG9675;SPH114;Spheroide;Sphe;anon-EST:ParkEST153;anon-WO0140519.154;sphe", "protein_name": "trypsin", "disease": [ { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], 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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: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:2562", "name": "suppurative periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2562", "evidence": [ { "id": "2562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2562" } ], "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: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. 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"hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC8", "url": "https://www.uniprot.org/uniprotkb/Q9VXC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXC8-1" }, { "uniprot_canonical_ac": "Q9VXE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXE2", "url": "https://www.uniprot.org/uniprotkb/Q9VXE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 46837.0, "gene_names": "Dmel\\CG9777;CG9777;Dmel\\CG9777;Dmel_CG9777", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXE2-1" }, { "uniprot_canonical_ac": "Q9VXF0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXF0", "url": "https://www.uniprot.org/uniprotkb/Q9VXF0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 25393.0, "gene_names": "Dmel\\CG13014;CG13014;Dmel\\CG13014;Dmel_CG13014", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXF0-1" }, { "uniprot_canonical_ac": "Q9VXF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXF4", "url": "https://www.uniprot.org/uniprotkb/Q9VXF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1137, "chemical_mass": 129333.0, "gene_names": "Dmel\\CG9902;CG9902;Dmel\\CG9902;Dmel_CG9902", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VXF4-1", "start_pos": "837", "end_pos": 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"Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1236, "chemical_mass": 142053.0, "gene_names": "sl;CG4200;DPLCgamma;Dmel\\CG4200;Dmel_CG4200;PLC-gamma D;PLC-gammaD;PLC-gamma;PLCgamma1;PLCgammaDmel;PLCgamma;PLC;Plcgamma;Sl;p145;plc-gammad;plc-gamma;sl", "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { "id": "0050424", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050424" } ], "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", 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FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.", "url": "https://disease-ontology.org/term/DOID:0090064", "evidence": [ { "id": "0090064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090064" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": 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}, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "phosphatidylinositol-mediated signaling", "id": "GO:0048015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048015", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q9VXH3", "url": "https://www.uniprot.org/uniprotkb/Q9VXH3" } ], "pmid": "" }, { "name": "phosphatidylinositol metabolic process", "id": "GO:0046488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046488", "evidence": [ { "database": "UniProtKB", 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VY18-1" }, { "uniprot_canonical_ac": "Q9VY19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VY19", "url": "https://www.uniprot.org/uniprotkb/Q9VY19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 254, "chemical_mass": 27990.0, "gene_names": "Ag5r2;Ag5r2;Agr2;CG9540;Dmel\\CG9540;Dmel_CG9540", "protein_name": "Venom allergen-1", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VY19", "url": "https://www.uniprot.org/uniprotkb/Q9VY19" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": 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