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protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY3", "url": "https://www.uniprot.org/uniprotkb/Q9VKY3" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY3", "url": "https://www.uniprot.org/uniprotkb/Q9VKY3" } ], "pmid": "" }, { "name": "mitochondrial protein quality control", "id": "GO:0141164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141164", "evidence": [ { "database": "UniProtKB", "id": "Q9VKY3", "url": "https://www.uniprot.org/uniprotkb/Q9VKY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKY3-1" }, { "uniprot_canonical_ac": "Q9VL29-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI6", "url": "https://www.uniprot.org/uniprotkb/Q9VMI6" } ], "pmid": "" } ], "biological_process": [ { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI6", "url": "https://www.uniprot.org/uniprotkb/Q9VMI6" } ], "pmid": "" }, { "name": "receptor recycling", "id": "GO:0001881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001881", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI6", "url": "https://www.uniprot.org/uniprotkb/Q9VMI6" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q9VMI6", "url": "https://www.uniprot.org/uniprotkb/Q9VMI6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMI6-1" }, { "uniprot_canonical_ac": "Q9VMJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 256, "chemical_mass": 30024.0, "gene_names": "Dmel\\CG13996;CG13996;Dmel\\CG13996;Dmel_CG13996", "protein_name": "SAM domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMJ2-1" }, { "uniprot_canonical_ac": "Q9VMJ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 672, "chemical_mass": 75362.0, "gene_names": 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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: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. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007525", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGW2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGW2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGW2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGW2" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGW2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGW2" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGW2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGW2" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": 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"chemical_mass": 146445.0, "gene_names": "mtd;CG10196;CG10199;CG32464;Dmel\\CG32464;Dmel_CG32464;L(3)82Fd;L82;anon-EST:Posey263;l(3)82FD;l(3)82Fd;mtd", "protein_name": "Oxidation resistance protein 1", "disease": [ { "disease_id": "DOID:0070339", "name": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", "description": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035191", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "apical constriction involved in gastrulation", "id": "GO:0003384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003384", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "oocyte axis specification", "id": "GO:0007309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007309", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "nurse cell nucleus anchoring", "id": "GO:0007302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007302", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "female germline ring canal stabilization", "id": "GO:0008335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008335", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "maintenance of epithelial cell apical/basal polarity", "id": "GO:0045199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045199", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "regulation of actin filament bundle assembly", "id": "GO:0032231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032231", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "regulation of cell junction assembly", "id": "GO:1901888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901888", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "assembly of apicomedial cortex actomyosin", "id": "GO:0106036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106036", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "establishment of imaginal disc-derived wing hair orientation", "id": "GO:0001737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001737", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "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": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "establishment of ommatidial planar polarity", "id": "GO:0042067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042067", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "mitotic cytokinesis, division site positioning", "id": "GO:1902408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902408", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "Rho-dependent protein serine/threonine kinase activity", "id": "GO:0072518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072518", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cell-cell contact zone", "id": "GO:0044291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044291", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" }, { "name": "apicomedial cortex", "id": "GO:0106037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106037", "evidence": [ { "database": "UniProtKB", "id": "Q9VXE3", "url": "https://www.uniprot.org/uniprotkb/Q9VXE3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXE3-1" }, { "uniprot_canonical_ac": "Q9W581-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W581", "url": "https://www.uniprot.org/uniprotkb/Q9W581" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1083, "chemical_mass": 122324.0, "gene_names": "Nmdar2;79G8T;CG14793;CG14794;CG33513;CT34603;DmelNmdar2;Dmel\\CG33513;Dmel_CG33513;DrNR2;EG:80H7.7;ESTS:79G8T;NMDA-R2;NMDAR2;NMDAR;NR2;NmdaR2;Nmdar2;anon-sts34;dNR2;dnmdar-II;dsNR2;nmdar2;nr2", "protein_name": "", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0070036", "name": "autosomal dominant intellectual developmental disorder 6", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.", "url": "https://disease-ontology.org/term/DOID:0070036", "evidence": [ { "id": "0070036", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070036" } ], "weight": 0.0 }, { "disease_id": "DOID:0080444", "name": "developmental and epileptic encephalopathy 27", "description": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12.", "url": "https://disease-ontology.org/term/DOID:0080444", "evidence": [ { "id": "0080444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080444" } ], "weight": 0.0 }, { "disease_id": "DOID:0080456", "name": "developmental and epileptic encephalopathy 46", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0080456", "evidence": [ { "id": "0080456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080456" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11206", "name": "opioid abuse", "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:11206", "evidence": [ { "id": "11206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11206" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "weight": 0.0 }, { "disease_id": "DOID:4377", "name": "egg allergy", "description": "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.", "url": "https://disease-ontology.org/term/DOID:4377", "evidence": [ { "id": "4377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4377" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV9", "url": "https://www.uniprot.org/uniprotkb/Q9VZV9" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV9", "url": "https://www.uniprot.org/uniprotkb/Q9VZV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV9", "url": "https://www.uniprot.org/uniprotkb/Q9VZV9" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VZV9", "url": "https://www.uniprot.org/uniprotkb/Q9VZV9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" }, { "name": "K63-linked deubiquitinase activity", "id": "GO:0061578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061578", "evidence": [ { "database": "UniProtKB", "id": "Q9VTK7", "url": "https://www.uniprot.org/uniprotkb/Q9VTK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTK7-1" }, { "uniprot_canonical_ac": "Q9VTY2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTY2", "url": "https://www.uniprot.org/uniprotkb/Q9VTY2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 317, "chemical_mass": 35796.0, "gene_names": 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], "biological_process": [ { "name": "sorbitol biosynthetic process", "id": "GO:0006061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006061", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY2", "url": "https://www.uniprot.org/uniprotkb/Q9VTY2" } ], "pmid": "" }, { "name": "fructose biosynthetic process", "id": "GO:0046370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046370", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY2", "url": "https://www.uniprot.org/uniprotkb/Q9VTY2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTY2-1" }, { "uniprot_canonical_ac": "A0A0B4KF61-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KF61", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF61" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 648, "chemical_mass": 71772.0, "gene_names": "Syt14;CG9778;Dmel\\CG9778;Dmel_CG9778;SYT14;Syt 14;Syt14;Syt16;dsyt14;syt14;syt16", "protein_name": "", "disease": [ { "disease_id": "DOID:0080063", "name": "autosomal recessive spinocerebellar ataxia 11", "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0080063", "evidence": [ { "id": "0080063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080063" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KF61", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF61" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KF61", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF61" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4KF61-1" }, { "uniprot_canonical_ac": "Q9VNT9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 340, "chemical_mass": 37654.0, "gene_names": "WUN-like;CG11426;Css1beta;Dmel\\CG11426;Dmel_CG11426;LPP-like;LPP;PAP2;WUN-like", "protein_name": "Phosphatidic acid phosphatase type 2/haloperoxidase domain-containing protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q9VNT9", "url": "https://www.uniprot.org/uniprotkb/Q9VNT9" } ], "pmid": "" }, { "name": "phospholipid 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"Dmel\\CG11523;CG11523;Dmel\\CG11523;Dmel_CG11523", "protein_name": "GSKIP domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VNV2", "url": "https://www.uniprot.org/uniprotkb/Q9VNV2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "Q9VNV2", "url": "https://www.uniprot.org/uniprotkb/Q9VNV2" } ], "pmid": "" }, { "name": "kinase regulator activity", "id": "GO:0019207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019207", "evidence": [ { "database": "UniProtKB", "id": "Q9VNV2", "url": "https://www.uniprot.org/uniprotkb/Q9VNV2" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q9VNV2", "url": "https://www.uniprot.org/uniprotkb/Q9VNV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNV2-1" }, { "uniprot_canonical_ac": "Q9VNW8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNW8", "url": "https://www.uniprot.org/uniprotkb/Q9VNW8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 572, "chemical_mass": 63574.0, "gene_names": "Dmel\\CG7458;CG7458;Dmel\\CG7458;Dmel_CG7458;Slc22a15", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.", "url": "https://disease-ontology.org/term/DOID:14365", "evidence": [ { "id": "14365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14365" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNW8", "url": "https://www.uniprot.org/uniprotkb/Q9VNW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VNW8", "url": "https://www.uniprot.org/uniprotkb/Q9VNW8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNW8-1" }, { "uniprot_canonical_ac": "Q9VNY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNY1", "url": "https://www.uniprot.org/uniprotkb/Q9VNY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 74, "chemical_mass": 8392.0, "gene_names": "BcDNA:GM07065;BcDNA:GM07065;CG7370;Dmel\\CG7370;Dmel_CG7370", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNY1-1" }, { "uniprot_canonical_ac": "Q9VNY7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNY7", "url": "https://www.uniprot.org/uniprotkb/Q9VNY7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 166, "chemical_mass": 17555.0, "gene_names": "Dmel\\CG14566;CG14566;Dmel\\CG14566;Dmel_CG14566", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNY7-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Thr81", "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": 81, "start_aa": "Thr", "end_pos": 81, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr81", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VNY7-1" }, { "uniprot_canonical_ac": "Q9VNZ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 171, "chemical_mass": 18204.0, "gene_names": "Dmel\\CG14568;BcDNA:RE21944;CG14568;Dmel\\CG14568;Dmel_CG14568", "protein_name": "DUF4794 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNZ0-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Thr58", "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": 58, "start_aa": "Thr", "end_pos": 58, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr58", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VNZ0-1" }, { "uniprot_canonical_ac": "Q9VNZ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VNZ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 228, "chemical_mass": 25026.0, "gene_names": "Dmel\\CG14570;CG14570;Dmel\\CG14570;Dmel_CG14570", "protein_name": "DUF4794 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNZ2-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Thr190", "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": 190, "start_aa": "Thr", "end_pos": 190, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr190", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VNZ2-1" }, { "uniprot_canonical_ac": "Q9VP06-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP06", "url": "https://www.uniprot.org/uniprotkb/Q9VP06" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 475, "chemical_mass": 54554.0, "gene_names": "Alg11;Alg11;CG11306;Dmel\\CG11306;Dmel_CG11306;dAlg11", "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase", "disease": [ { "disease_id": "DOID:0080567", "name": "congenital disorder of glycosylation Ip", "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.", "url": "https://disease-ontology.org/term/DOID:0080567", "evidence": [ { "id": "0080567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080567" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VP06", "url": "https://www.uniprot.org/uniprotkb/Q9VP06" } ], "pmid": "" } ], "biological_process": [ { "name": "dolichol-linked oligosaccharide biosynthetic process", "id": "GO:0006488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006488", "evidence": [ { "database": "UniProtKB", "id": "Q9VP06", "url": "https://www.uniprot.org/uniprotkb/Q9VP06" } ], "pmid": "" } ], "molecular_function": [ { "name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity", "id": "GO:0004377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004377", "evidence": [ { "database": "UniProtKB", "id": "Q9VP06", "url": "https://www.uniprot.org/uniprotkb/Q9VP06" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VP06-1" }, { "uniprot_canonical_ac": "Q9VP08-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 467, "chemical_mass": 53024.0, "gene_names": "CT22143;CG7166;CT22143;Dmel\\CG7166;Dmel_CG7166", "protein_name": "Ig-like domain-containing protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "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": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "pmid": "" } ], "molecular_function": [ { "name": "axon guidance receptor activity", "id": "GO:0008046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008046", "evidence": [ { "database": "UniProtKB", "id": "Q9VP08", "url": "https://www.uniprot.org/uniprotkb/Q9VP08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VP08-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Thr448", "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": 448, "start_aa": "Thr", "end_pos": 448, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr448", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VP08-1" }, { "uniprot_canonical_ac": "Q9VP10-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP10", "url": "https://www.uniprot.org/uniprotkb/Q9VP10" } ], "common_name": "Fruit fly", "glygen_name": 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"pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC2", "url": "https://www.uniprot.org/uniprotkb/Q9VPC2" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC2", "url": "https://www.uniprot.org/uniprotkb/Q9VPC2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPC2-1" }, { "uniprot_canonical_ac": "Q9VPE3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPE3", "url": "https://www.uniprot.org/uniprotkb/Q9VPE3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 513, "chemical_mass": 56901.0, "gene_names": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE3", "url": "https://www.uniprot.org/uniprotkb/Q9VPE3" } ], "pmid": "" }, { "name": "zinc efflux transmembrane transporter activity", "id": "GO:0022883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022883", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE3", "url": "https://www.uniprot.org/uniprotkb/Q9VPE3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE3", "url": "https://www.uniprot.org/uniprotkb/Q9VPE3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VPE3", "url": "https://www.uniprot.org/uniprotkb/Q9VPE3" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": 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"name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF3", "url": "https://www.uniprot.org/uniprotkb/Q9VPF3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF3", "url": "https://www.uniprot.org/uniprotkb/Q9VPF3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF3", "url": "https://www.uniprot.org/uniprotkb/Q9VPF3" } ], "pmid": "" } ], "biological_process": [ { "name": "L-phenylalanine catabolic process", "id": "GO:0006559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006559", "evidence": [ { "database": "UniProtKB", "id": "Q9VPF3", "url": "https://www.uniprot.org/uniprotkb/Q9VPF3" } ], "pmid": "" }, { "name": "L-tyrosine 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPU6", "url": "https://www.uniprot.org/uniprotkb/Q9VPU6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 316, "chemical_mass": 36350.0, "gene_names": "Dmel\\CG13950;CG13950;Dmel\\CG13950;Dmel_CG13950", "protein_name": "Galectin", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": 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"https://www.alliancegenome.org/disease/DOID:10966" } ], "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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID: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:707", "name": "B-cell lymphoma", "description": "A non-Hodgkin lymphoma that has_material_basis_in B cells.", "url": "https://disease-ontology.org/term/DOID:707", "evidence": [ { "id": "707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:707" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q9VPU6", "url": "https://www.uniprot.org/uniprotkb/Q9VPU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPU6-1" }, { "uniprot_canonical_ac": "Q9VPW2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 411, "chemical_mass": 45646.0, "gene_names": 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} ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "protein-phosphatidylethanolamide deconjugating activity", "id": "GO:0019786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019786", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "Q9VPW2", "url": "https://www.uniprot.org/uniprotkb/Q9VPW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPW2-1" }, { "uniprot_canonical_ac": "Q9VPX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 503, "chemical_mass": 57538.0, "gene_names": "l(2)10685;CG4749;Dmel\\CG4749;Dmel_CG4749;anon-WO0118547.81;l(2)10685", "protein_name": "NOL1/NOP2/Sun domain family member 4", "disease": [], "biological_process": [ { "name": "rRNA methylation", "id": "GO:0031167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031167", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "mitochondrial large ribosomal subunit assembly", "id": "GO:1902775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902775", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "mitochondrial RNA modification", "id": "GO:1900864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900864", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" } ], "molecular_function": [ { "name": "rRNA (cytosine-C5-)-methyltransferase activity", "id": "GO:0009383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009383", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "rRNA methyltransferase activity", "id": "GO:0008649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008649", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "RNA methyltransferase activity", "id": "GO:0008173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008173", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "mitochondrial ribosomal large subunit rRNA binding", "id": "GO:1990400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990400", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" }, { "name": "RNA folding chaperone", "id": "GO:0140691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140691", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX3", "url": "https://www.uniprot.org/uniprotkb/Q9VPX3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPX3-1" }, { "uniprot_canonical_ac": "Q9VPX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 33348.0, "gene_names": "Tfb4;CG5041;Dmel\\CG5041;Dmel_CG5041;Dmp34;TFB4;Tfb4;p34", "protein_name": "General transcription factor IIH subunit 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "transcription factor TFIIH holo complex", "id": "GO:0005675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005675", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": 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"url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "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": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "RNA polymerase II promoter clearance", "id": "GO:0001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001111", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" }, { "name": "transcription open complex formation at RNA polymerase II promoter", "id": "GO:0001113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001113", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX4", "url": "https://www.uniprot.org/uniprotkb/Q9VPX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPX4-1" }, { "uniprot_canonical_ac": "Q9VPX5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPX5", "url": "https://www.uniprot.org/uniprotkb/Q9VPX5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 20474.0, "gene_names": "Vps29;CG4764;DmVps29;Dmel\\CG4764;Dmel_CG4764;VPS29;Vps29", "protein_name": "Vacuolar protein sorting-associated protein 29", "disease": [], "cellular_component": [ { "name": "retromer, cargo-selective complex", "id": "GO:0030906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030906", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX5", "url": "https://www.uniprot.org/uniprotkb/Q9VPX5" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX5", "url": "https://www.uniprot.org/uniprotkb/Q9VPX5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VPX5", "url": "https://www.uniprot.org/uniprotkb/Q9VPX5" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": 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"biomarkers": [], "sites": [], "record_id": "Q9VPZ2-1" }, { "uniprot_canonical_ac": "Q9VQ11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ11", "url": "https://www.uniprot.org/uniprotkb/Q9VQ11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 418, "chemical_mass": 45878.0, "gene_names": "Dmel\\CG31928;CG10872;CG31928;Dmel\\CG31928;Dmel_CG31928", "protein_name": "Peptidase A1 domain-containing protein", "disease": [ { "disease_id": "DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.", "url": "https://disease-ontology.org/term/DOID:0050811", "evidence": [ { "id": "0050811", "database": "AGR", "url": 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"name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR61", "url": "https://www.uniprot.org/uniprotkb/Q9VR61" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 911, "chemical_mass": 100419.0, "gene_names": "S6kII;CG17596;D-RSK;Dmel\\CG17596;Dmel_CG17596;RSK;Rsk;S6KII;S6kII;dRSK;dRsk;ign;rsk2;rsk", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0050668", "name": "alcohol-related birth defects", "description": "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.", "url": "https://disease-ontology.org/term/DOID:0050668", "evidence": [ { "id": "0050668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050668" } ], "weight": 0.0 }, { "disease_id": "DOID:0112019", "name": "non-syndromic X-linked intellectual disability 19", 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 522, "chemical_mass": 56882.0, "gene_names": "Cbs;CBS;CG1753;Cbs;Csb;DmCBS;Dmel\\CG1753;Dmel_CG1753;cbs;dCBS", "protein_name": "Cystathionine beta-synthase", "disease": [ { "disease_id": "DOID:0050731", "name": "vitamin B12 deficiency", "description": "A vitamin metabolic disorder that results from low blood levels of vitamin B12.", "url": "https://disease-ontology.org/term/DOID:0050731", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ], "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: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: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: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: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: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 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"url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "cystathionine beta-synthase activity", "id": "GO:0004122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004122", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "nitrite reductase (NO-forming) activity", "id": "GO:0050421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050421", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" } ], "biological_process": [ { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "cysteine biosynthetic process from serine", "id": "GO:0006535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006535", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "cysteine biosynthetic process via cystathionine", "id": "GO:0019343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019343", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "homocysteine metabolic process", "id": "GO:0050667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050667", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" }, { "name": "hydrogen sulfide biosynthetic process", "id": "GO:0070814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070814", "evidence": [ { "database": "UniProtKB", "id": "Q9VRD9", "url": "https://www.uniprot.org/uniprotkb/Q9VRD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRD9-1" }, { "uniprot_canonical_ac": "Q9VRE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRE2", "url": "https://www.uniprot.org/uniprotkb/Q9VRE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 414, "chemical_mass": 45176.0, "gene_names": "bves;BcDNA:SD21670;CG15448;CG1544;CG1754;CG32513;Dmel\\CG32513;Dmel_CG32513;bves", "protein_name": "", "disease": [ { "disease_id": "DOID:0061131", "name": "autosomal recessive limb-girdle muscular dystrophy type 26", "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0061131", "evidence": [ { "id": "0061131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061131" } ], "weight": 0.0 }, { "disease_id": "DOID:0110290", "name": "autosomal recessive limb-girdle muscular dystrophy type 2X", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.", "url": "https://disease-ontology.org/term/DOID:0110290", "evidence": [ { "id": "0110290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110290" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9VRE2", "url": 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"database": "UniProtKB", "id": "Q9VRE9", "url": "https://www.uniprot.org/uniprotkb/Q9VRE9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 307, "chemical_mass": 34475.0, "gene_names": "Dmel\\CG1503;CG1503;Dmel\\CG1503;Dmel_CG1503", "protein_name": "Ubiquitin-like protease family profile domain-containing protein", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VRE9", "url": "https://www.uniprot.org/uniprotkb/Q9VRE9" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VRE9", "url": "https://www.uniprot.org/uniprotkb/Q9VRE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRE9-1" }, { "uniprot_canonical_ac": "Q9VRF5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRF5", "url": "https://www.uniprot.org/uniprotkb/Q9VRF5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 263, "chemical_mass": 31074.0, "gene_names": "ccb;CCB;CG14579;Dmel\\CG14579;Dmel_CG14579;ccb", "protein_name": "", "disease": [ { "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 } ], "biological_process": [ { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9VRF5", "url": "https://www.uniprot.org/uniprotkb/Q9VRF5" } ], "pmid": "" }, { "name": "central complex development", "id": "GO:0048036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048036", "evidence": [ { "database": "UniProtKB", "id": "Q9VRF5", "url": "https://www.uniprot.org/uniprotkb/Q9VRF5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRF5-1" }, { "uniprot_canonical_ac": "Q9VRJ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 212, "chemical_mass": 23829.0, "gene_names": "CHMP2B;CG4618;CHMP2B;Dmel\\CG4618;Dmel_CG4618;cg4618", "protein_name": "", "disease": [ { "disease_id": "DOID:0111227", "name": "frontotemporal dementia and/or 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"cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q9VTT3", "url": "https://www.uniprot.org/uniprotkb/Q9VTT3" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9VTT3", "url": "https://www.uniprot.org/uniprotkb/Q9VTT3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTT3-1" }, { "uniprot_canonical_ac": "Q9VTV2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTV2", "url": "https://www.uniprot.org/uniprotkb/Q9VTV2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 287, "chemical_mass": 31848.0, "gene_names": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VTV2", "url": "https://www.uniprot.org/uniprotkb/Q9VTV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTV2-1" }, { "uniprot_canonical_ac": "Q9VTW3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTW3", "url": "https://www.uniprot.org/uniprotkb/Q9VTW3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 544, "chemical_mass": 59635.0, "gene_names": "Dmel\\CG4328;CG4328;Dmel\\CG4328;Dmel_CG4328", "protein_name": "LIM homeobox transcription factor 1-beta", "disease": [ { "disease_id": "DOID:9467", "name": "nail-patella syndrome", "description": "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 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"name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VTW3", "url": "https://www.uniprot.org/uniprotkb/Q9VTW3" } ], "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": "Q9VTW3", "url": "https://www.uniprot.org/uniprotkb/Q9VTW3" } ], "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": "Q9VTW3", "url": "https://www.uniprot.org/uniprotkb/Q9VTW3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTW3-1" }, { "uniprot_canonical_ac": "Q9VTY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTY1", "url": "https://www.uniprot.org/uniprotkb/Q9VTY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 334, "chemical_mass": 38006.0, "gene_names": "Dmel\\CG10657;BEST:LD32330;CG10657;Dmel\\CG10657;Dmel_CG10657", "protein_name": "CRAL-TRIO domain-containing protein", "disease": [ { "disease_id": "DOID:0050683", "name": "Bothnia retinal dystrophy", "description": "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene.", "url": "https://disease-ontology.org/term/DOID:0050683", "evidence": [ { "id": "0050683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050683" } ], "weight": 0.0 }, { "disease_id": "DOID:0111015", "name": "Newfoundland cone-rod dystrophy", "description": "A cone-rod 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"url": "https://disease-ontology.org/term/DOID:11105", "evidence": [ { "id": "11105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11105" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY1", "url": "https://www.uniprot.org/uniprotkb/Q9VTY1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VTY1", "url": "https://www.uniprot.org/uniprotkb/Q9VTY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTY1-1" }, { "uniprot_canonical_ac": "Q9VTZ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTZ1", "url": 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"Tsf2;CG10620;Dmel\\CG10620;MTf;Mtf;Tsf2;mtf;tsf2", "protein_name": "Transferrin 2", "disease": [ { "disease_id": "DOID:0050425", "name": "restless legs syndrome", "description": "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.", "url": "https://disease-ontology.org/term/DOID:0050425", "evidence": [ { "id": "0050425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050425" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050649", "name": "atransferrinemia", "description": "A metal 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"weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVA6", "url": "https://www.uniprot.org/uniprotkb/Q9VVA6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 90, "chemical_mass": 9649.0, "gene_names": "COX7B;BcDNA:RH19679;CG7630;COX7B;Dmel\\CG7630;Dmel_CG7630;anon-EST:Posey153;anon-EST:Posey228", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG5", "url": "https://www.uniprot.org/uniprotkb/Q9VVG5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVG5-1" }, { "uniprot_canonical_ac": "Q9VVH2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVH2", "url": "https://www.uniprot.org/uniprotkb/Q9VVH2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1322, "chemical_mass": 143907.0, "gene_names": "ORE-10;CG18265;Dmel\\CG18265;Dmel_CG18265;ORE-10", "protein_name": "C2H2-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH2", "url": "https://www.uniprot.org/uniprotkb/Q9VVH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVH2-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Thr460", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", 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"GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VVH2-1" }, { "uniprot_canonical_ac": "Q9VVH7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVH7", "url": "https://www.uniprot.org/uniprotkb/Q9VVH7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 233, "chemical_mass": 26348.0, "gene_names": "qjt;CG13732;Dmel\\CG13732;Dmel_CG13732;Nse2;Qjt;Quijote;qjt", "protein_name": "E3 SUMO-protein ligase NSE2", "disease": [ { "disease_id": "DOID:0070008", "name": "Seckel syndrome 10", "description": "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.", "url": "https://disease-ontology.org/term/DOID:0070008", "evidence": [ { "id": "0070008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070008" } ], "weight": 0.0 }, { 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"evidence": [ { "database": "UniProtKB", "id": "Q9VVH7", "url": "https://www.uniprot.org/uniprotkb/Q9VVH7" } ], "pmid": "" }, { "name": "chromatin looping", "id": "GO:0140588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140588", "evidence": [ { "database": "UniProtKB", "id": "Q9VVH7", "url": "https://www.uniprot.org/uniprotkb/Q9VVH7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVH7-1" }, { "uniprot_canonical_ac": "Q9VVK1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVK1", "url": "https://www.uniprot.org/uniprotkb/Q9VVK1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 55676.0, "gene_names": "Dmel\\CG7460;CG7460;Dmel\\CG7460;Dmel_CG7460", "protein_name": "Amine oxidase domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK1", "url": "https://www.uniprot.org/uniprotkb/Q9VVK1" } ], "pmid": "" } ], "molecular_function": [ { "name": "polyamine oxidase activity", "id": "GO:0046592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046592", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK1", "url": "https://www.uniprot.org/uniprotkb/Q9VVK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVK1-1" }, { "uniprot_canonical_ac": "Q9VVK3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVK3", "url": "https://www.uniprot.org/uniprotkb/Q9VVK3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 470, "chemical_mass": 53101.0, "gene_names": 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"https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2725", "name": "capillary hemangioma", "description": "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.", "url": "https://disease-ontology.org/term/DOID:2725", "evidence": [ { "id": "2725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2725" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:381", "name": "arthropathy", "description": "A bone disease that is located_in the joint.", "url": "https://disease-ontology.org/term/DOID:381", "evidence": [ { "id": "381", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:381" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "weight": 0.0 }, { "disease_id": "DOID:4680", "name": "breast metaplastic carcinoma", "description": "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.", "url": "https://disease-ontology.org/term/DOID:4680", "evidence": [ { "id": "4680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4680" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:57", "name": "aortic valve insufficiency", "description": "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.", "url": "https://disease-ontology.org/term/DOID:57", "evidence": [ { "id": "57", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:57" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID: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:971", "name": "tendinitis", "description": "", "url": "https://disease-ontology.org/term/DOID:971", "evidence": [ { "id": "971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:971" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK3", "url": "https://www.uniprot.org/uniprotkb/Q9VVK3" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK3", "url": "https://www.uniprot.org/uniprotkb/Q9VVK3" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9VVK3", "url": "https://www.uniprot.org/uniprotkb/Q9VVK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVK3-1" }, { "uniprot_canonical_ac": "Q9VVM8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVM8", "url": "https://www.uniprot.org/uniprotkb/Q9VVM8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 798, "chemical_mass": 92171.0, "gene_names": "Dmel\\CG5290;CG5290;Dmel\\CG5290;Dmel_CG5290", "protein_name": "Tetratricopeptide repeat protein 27", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVM8-1" }, { "uniprot_canonical_ac": "Q9VVQ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VVQ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 49077.0, "gene_names": "Dmel\\CG7271;CG7271;Dmel\\CG7271;Dmel_CG7271", "protein_name": "C2H2-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VVQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VVQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVQ2-1" }, { "uniprot_canonical_ac": "Q9VVS3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVS3", "url": "https://www.uniprot.org/uniprotkb/Q9VVS3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 378, "chemical_mass": 44132.0, "gene_names": "anon-WO0118547.731;CG6885;Dmel\\CG6885;Dmel_CG6885;anon-WO0118547.731", "protein_name": "Protein terminus", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVS3-1" }, { "uniprot_canonical_ac": "Q9VVS5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVS5", "url": "https://www.uniprot.org/uniprotkb/Q9VVS5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 511, "chemical_mass": 57159.0, "gene_names": "Nufip;CG4076;Dmel\\CG4076;Dmel_CG4076;NUFIP;Nufip", "protein_name": "", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS5", "url": "https://www.uniprot.org/uniprotkb/Q9VVS5" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS5", "url": "https://www.uniprot.org/uniprotkb/Q9VVS5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS5", "url": "https://www.uniprot.org/uniprotkb/Q9VVS5" } ], "pmid": "" } ], "biological_process": [ { "name": "box C/D snoRNP assembly", "id": "GO:0000492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000492", "evidence": [ { "database": "UniProtKB", "id": "Q9VVS5", "url": "https://www.uniprot.org/uniprotkb/Q9VVS5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVS5-1" }, { "uniprot_canonical_ac": "Q9VVT6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 114, "chemical_mass": 12411.0, "gene_names": "Grx1;BcDNA:GH24739;CG6852;Dmel\\CG6852;Dmel_CG6852;Grx1", "protein_name": "Glutaredoxin-2, mitochondrial", "disease": [ { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in 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"database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "pmid": "" }, { "name": "copper ion homeostasis", "id": "GO:0055070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055070", "evidence": [ { "database": "UniProtKB", "id": "Q9VVT6", "url": "https://www.uniprot.org/uniprotkb/Q9VVT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VVT6-1" }, { "uniprot_canonical_ac": "Q9VVU8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVU8", "url": "https://www.uniprot.org/uniprotkb/Q9VVU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 32185.0, "gene_names": "COX6AL2;CG14077;COX6AL2;Dmel\\CG14077;Dmel_CG14077;VIa", "protein_name": "", "disease": [ { "disease_id": "DOID:0070503", "name": "mitochondrial complex IV deficiency nuclear type 18", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0070503", "evidence": [ { "id": "0070503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070503" } ], "weight": 0.0 }, { "disease_id": "DOID:0110203", "name": "Charcot-Marie-Tooth disease recessive intermediate D", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0110203", "evidence": [ { "id": "0110203", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110203" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VVU8", "url": "https://www.uniprot.org/uniprotkb/Q9VVU8" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", 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temperature stimulus involved in thermoception", "id": "GO:0050960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050960", "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VVZ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VVZ8" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VVZ8" } ], "pmid": "" }, { "name": "stretch-activated, monoatomic cation-selective, calcium channel activity", "id": "GO:0015275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015275", "evidence": [ { "database": "UniProtKB", "id": "Q9VVZ8", "url": 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} ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 149, "chemical_mass": 17254.0, "gene_names": "Hesr;CG5927;Dmel\\CG5927;Dmel_CG5927;Her;Hesr;bHLHc21", "protein_name": "", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9VWX7", "url": "https://www.uniprot.org/uniprotkb/Q9VWX7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VWX7", "url": "https://www.uniprot.org/uniprotkb/Q9VWX7" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9VWX7", "url": 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break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q9VXT4", "url": "https://www.uniprot.org/uniprotkb/Q9VXT4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXT4-1" }, { "uniprot_canonical_ac": "Q9VXV1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXV1", "url": "https://www.uniprot.org/uniprotkb/Q9VXV1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 205, "chemical_mass": 22892.0, "gene_names": "Dmel\\CG6299;CG6299;Dmel\\CG6299;Dmel_CG6299", "protein_name": "Glycolipid transfer protein domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": 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"Drosophila melanogaster [7227]" } ], "length": 260, "chemical_mass": 30170.0, "gene_names": "Clic;CG10997;CLIC;Clic;DCLIC;DmCLIC;Dmel\\CG10997;clic;l(1)G0053;l(1)G0472", "protein_name": "Chloride intracellular channel Clic", "disease": [ { "disease_id": "DOID:0110464", "name": "autosomal recessive nonsyndromic deafness 103", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0110464", "evidence": [ { "id": "0110464", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110464" } ], "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 } ], "biological_process": [ { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "negative gravitaxis", "id": "GO:0048060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048060", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "Q9VY78", "url": "https://www.uniprot.org/uniprotkb/Q9VY78" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VY78-1" }, { "uniprot_canonical_ac": "Q9VY87-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VY87", "url": "https://www.uniprot.org/uniprotkb/Q9VY87" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 340, "chemical_mass": 37424.0, "gene_names": "CtsB;CB;CG-10992;CG10992;CTSB1;CTSB;CathB;CtsB1;CtsB;Ctsb1;Dmel\\CG10992;Dmel_CG10992;anon-EST:ParkEST132", "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 five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:885", "name": "fascioliasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. 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Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.", "url": "https://disease-ontology.org/term/DOID:885", "evidence": [ { "id": "885", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:885" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": 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"Q9VY87", "url": "https://www.uniprot.org/uniprotkb/Q9VY87" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "Q9VY87", "url": "https://www.uniprot.org/uniprotkb/Q9VY87" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "Q9VY87", "url": "https://www.uniprot.org/uniprotkb/Q9VY87" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VY87-1" }, { "uniprot_canonical_ac": "Q9VYC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VYC1", "url": "https://www.uniprot.org/uniprotkb/Q9VYC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 555, "chemical_mass": 61530.0, "gene_names": "Trhn;CG9122;CT9937;DTRHn;DTRH;Dmel\\CG9122;Dmel_CG9122;TRHn;TRH;TrH;Trhn;Trh;dTrh;trh", "protein_name": "Tryptophan 5-hydroxylase 2", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10930", "name": "borderline personality disorder", "description": "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.", "url": "https://disease-ontology.org/term/DOID:10930", "evidence": [ { "id": "10930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10930" } ], "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:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13709", "name": "premature ejaculation", "description": "", "url": "https://disease-ontology.org/term/DOID:13709", "evidence": [ { "id": "13709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13709" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1595", "name": "melancholic depression", "description": "A major depressive disorder characterized by near-complete absence of pleasure.", "url": "https://disease-ontology.org/term/DOID:1595", "evidence": [ { "id": "1595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1595" } ], "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: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2468", "name": "psychotic disorder", "description": "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.", "url": "https://disease-ontology.org/term/DOID:2468", "evidence": [ { "id": "2468", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2468" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID: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:594", "name": "panic disorder", "description": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.", "url": "https://disease-ontology.org/term/DOID:594", "evidence": [ { "id": "594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:594" } ], "weight": 0.0 }, { "disease_id": "DOID:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:727", "name": "premenstrual tension", "description": "", "url": "https://disease-ontology.org/term/DOID:727", "evidence": [ { "id": "727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:727" } ], "weight": 0.0 }, { "disease_id": "DOID:8645", "name": "subacute delirium", "description": "", "url": "https://disease-ontology.org/term/DOID:8645", "evidence": [ { "id": "8645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8645" } ], "weight": 0.0 }, { "disease_id": "DOID:9478", "name": "postpartum depression", "description": "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.", "url": "https://disease-ontology.org/term/DOID:9478", "evidence": [ { "id": "9478", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9478" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "developmental pigmentation", "id": "GO:0048066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "serotonin biosynthetic process from tryptophan", "id": "GO:0006587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006587", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "tracheal pit formation in open tracheal system", "id": "GO:0035202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035202", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "larval feeding behavior", "id": "GO:0030536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030536", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" } ], "molecular_function": [ { "name": "tryptophan 5-monooxygenase activity", "id": "GO:0004510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004510", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "phenylalanine 4-monooxygenase activity", "id": "GO:0004505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004505", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9W0K2", "url": "https://www.uniprot.org/uniprotkb/Q9W0K2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0K2-1" }, { "uniprot_canonical_ac": "Q9W0L9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0L9", "url": "https://www.uniprot.org/uniprotkb/Q9W0L9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 525, "chemical_mass": 57670.0, "gene_names": "dpr20;CG12191;CT9818;Dmel\\CG12191;Dmel_CG12191;Dpr-20;Dpr20;dpr20", "protein_name": "", "disease": [], "cellular_component": [ { "name": "neuron projection membrane", "id": "GO:0032589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032589", "evidence": [ { "database": "UniProtKB", "id": "Q9W0L9", "url": "https://www.uniprot.org/uniprotkb/Q9W0L9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W0L9", "url": "https://www.uniprot.org/uniprotkb/Q9W0L9" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9W0L9", "url": "https://www.uniprot.org/uniprotkb/Q9W0L9" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q9W0L9", "url": "https://www.uniprot.org/uniprotkb/Q9W0L9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0L9-1" }, { "uniprot_canonical_ac": "Q9W0N8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0N8", "url": "https://www.uniprot.org/uniprotkb/Q9W0N8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 446, "chemical_mass": 49468.0, "gene_names": "hiro;CG3344;Dmel\\CG3344;Dmel_CG3344;hiro", "protein_name": "Retinoid-inducible serine carboxypeptidase", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N8", "url": "https://www.uniprot.org/uniprotkb/Q9W0N8" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N8", "url": "https://www.uniprot.org/uniprotkb/Q9W0N8" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N8", "url": "https://www.uniprot.org/uniprotkb/Q9W0N8" } ], "pmid": "" }, { "name": "serine-type carboxypeptidase activity", "id": "GO:0004185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004185", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N8", "url": "https://www.uniprot.org/uniprotkb/Q9W0N8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0N8-1" }, { "uniprot_canonical_ac": "Q9W0P4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0P4", "url": "https://www.uniprot.org/uniprotkb/Q9W0P4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 123, "chemical_mass": 13739.0, "gene_names": "BcDNA:LD06317;BcDNA:LD06317;CG3402;Dmel\\CG3402;Dmel_CG3402", "protein_name": "PDZ domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0P4-1" }, { "uniprot_canonical_ac": "Q9W0R0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0R0", "url": "https://www.uniprot.org/uniprotkb/Q9W0R0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 814, "chemical_mass": 93085.0, "gene_names": "Cdc5;CG6905;Cdc5Dm;Cdc5;Dmel\\CG6905;Dmel_CG6905;cdc5-like;cdc5;cef1", "protein_name": "", "disease": [ { "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: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. 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"" } ], "molecular_function": [ { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q9W0X3", "url": "https://www.uniprot.org/uniprotkb/Q9W0X3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein insertion into mitochondrial inner membrane from matrix", "id": "GO:0032979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032979", "evidence": [ { "database": "UniProtKB", "id": "Q9W0X3", "url": "https://www.uniprot.org/uniprotkb/Q9W0X3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W0X3-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "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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"" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W3J9", "url": "https://www.uniprot.org/uniprotkb/Q9W3J9" } ], "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": "Q9W3J9", "url": "https://www.uniprot.org/uniprotkb/Q9W3J9" } ], "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": "Q9W3J9", "url": "https://www.uniprot.org/uniprotkb/Q9W3J9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3J9-1" }, { "uniprot_canonical_ac": "Q9W3K3-1", "species": [ { "name": "Drosophila 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"uniprot_canonical_ac": "Q9W3S0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3S0", "url": "https://www.uniprot.org/uniprotkb/Q9W3S0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 231, "chemical_mass": 26425.0, "gene_names": "Dmel\\CG1958;CG1958;Dmel\\CG1958;Dmel_CG1958", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3S0-1" }, { "uniprot_canonical_ac": "Q9W3V3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3V3", "url": "https://www.uniprot.org/uniprotkb/Q9W3V3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 303, "chemical_mass": 31964.0, "gene_names": "detr;CG14435;Dmel\\CG14435;Dmel_CG14435", "protein_name": "E3 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"name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W3V3", "url": "https://www.uniprot.org/uniprotkb/Q9W3V3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9W3V3", "url": "https://www.uniprot.org/uniprotkb/Q9W3V3" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9W3V3", "url": "https://www.uniprot.org/uniprotkb/Q9W3V3" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9W3V3", "url": 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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:5138", "name": "leiomyomatosis", "description": "A leiomyoma that is multiple and diffuse.", "url": "https://disease-ontology.org/term/DOID:5138", "evidence": [ { "id": "5138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5138" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "fumarate hydratase activity", "id": "GO:0004333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004333", "evidence": [ { "database": "UniProtKB", "id": "Q9W3X6", "url": "https://www.uniprot.org/uniprotkb/Q9W3X6" } ], "pmid": "" } ], "biological_process": [ { "name": "fumarate metabolic process", "id": "GO:0006106", "url": 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 67, "chemical_mass": 7623.0, "gene_names": "Dmel\\CG42867;CG42867;Dmel\\CG42867;Dmel_CG42867", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4JCV2-1" }, { "uniprot_canonical_ac": "A0A0B4K6B2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K6B2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K6B2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 122, "chemical_mass": 14713.0, "gene_names": "Dmel\\CG43290;CG43290;Dmel\\CG43290;Dmel_CG43290", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4K6B2-1" }, { "uniprot_canonical_ac": "A0A0B4KEZ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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} ], "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:1088", "name": "meningocele", "description": "A spina bifida that is characterized by herniation of the meninges between the vertebrae.", "url": "https://disease-ontology.org/term/DOID:1088", "evidence": [ { "id": "1088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1088" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": 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"" } ], "biological_process": [ { "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045886", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046621", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "positive regulation of lipophagy", "id": "GO:1904504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904504", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030948", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "larval midgut histolysis", "id": "GO:0035069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035069", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "Q9VW83", "url": "https://www.uniprot.org/uniprotkb/Q9VW83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VW83-1" }, { "uniprot_canonical_ac": "M9PGT2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PGT2", "url": "https://www.uniprot.org/uniprotkb/M9PGT2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 496, "chemical_mass": 52352.0, "gene_names": "CG15307;Dmel\\CG43740;CG12641;CG15307;CG43740;Dmel\\CG43740;Dmel_CG43740", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "M9PGT2", "url": 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}, { "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "M9MRT1", "url": "https://www.uniprot.org/uniprotkb/M9MRT1" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "M9MRT1", "url": "https://www.uniprot.org/uniprotkb/M9MRT1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "M9MRT1", "url": "https://www.uniprot.org/uniprotkb/M9MRT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MRT1-1" }, { "uniprot_canonical_ac": "M9PB43-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PB43", "url": "https://www.uniprot.org/uniprotkb/M9PB43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 39706.0, "gene_names": "Dmel\\CG14020;CG14020;Dmel\\CG14020;Dmel_CG14020", "protein_name": "Transmembrane protein 231", "disease": [ { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0110989", "name": "Joubert syndrome 20", "description": "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.", "url": "https://disease-ontology.org/term/DOID:0110989", "evidence": [ { "id": "0110989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110989" } ], "weight": 0.0 }, { "disease_id": "DOID:4501", "name": "orofaciodigital syndrome", "description": "A syndrome that is characterized by malformations of the face, oral cavity, and digits.", "url": "https://disease-ontology.org/term/DOID:4501", "evidence": [ { "id": "4501", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4501" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "M9PB43", "url": "https://www.uniprot.org/uniprotkb/M9PB43" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "M9PB43", "url": "https://www.uniprot.org/uniprotkb/M9PB43" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "M9PB43", "url": "https://www.uniprot.org/uniprotkb/M9PB43" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "M9PB43", "url": "https://www.uniprot.org/uniprotkb/M9PB43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PB43-1" }, { "uniprot_canonical_ac": "M9PEH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PEH8", "url": "https://www.uniprot.org/uniprotkb/M9PEH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 996, "chemical_mass": 111662.0, "gene_names": "fmt;CG10289;Dmel\\CG10289;Dmel_CG10289;PpV[[R]];fmt", "protein_name": 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"pmid": "" } ], "biological_process": [ { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "M9PEH8", "url": "https://www.uniprot.org/uniprotkb/M9PEH8" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "M9PEH8", "url": "https://www.uniprot.org/uniprotkb/M9PEH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PEH8-1" }, { "uniprot_canonical_ac": "E1JI03-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 553, "chemical_mass": 62242.0, "gene_names": "bmm;ATGL;Atgl;BMM;Bmm;CG5295;DmATGL;Dmel\\CG5295;Dmel_CG5295;SCAP;TGL;bmm", "protein_name": "triacylglycerol lipase", "disease": [ { "disease_id": "DOID:0050729", "name": "Chanarin-Dorfman syndrome", "description": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.", "url": "https://disease-ontology.org/term/DOID:0050729", "evidence": [ { "id": "0050729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050729" } ], "weight": 0.0 }, { "disease_id": "DOID:0060158", "name": "acquired metabolic disease", "description": "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.", "url": "https://disease-ontology.org/term/DOID:0060158", "evidence": [ { "id": "0060158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060158" } ], "weight": 0.0 }, { "disease_id": "DOID:0060719", "name": "autosomal recessive congenital ichthyosis 10", "description": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0060719", "evidence": [ { "id": "0060719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060719" } ], "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: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: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: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: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: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: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": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "triglyceride mobilization", "id": "GO:0006642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006642", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" }, { "name": "negative regulation of triglyceride storage", "id": "GO:0010891", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "E1JI03", "url": "https://www.uniprot.org/uniprotkb/E1JI03" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JI03-1" }, { "uniprot_canonical_ac": "B7Z069-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 605, "chemical_mass": 69437.0, "gene_names": "Ir75b;75b;CG14586-B;CG14586;CG42643;DmelIR75b;Dmel\\CG42643;Dmel_CG42643;IR75abc;IR75b;Ir75abc;Ir75b", "protein_name": "Ionotropic receptor 75a", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception", "id": "GO:0050907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050907", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "B7Z069", "url": "https://www.uniprot.org/uniprotkb/B7Z069" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7Z069-1" }, { "uniprot_canonical_ac": "B7Z0B2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7Z0B2", "url": "https://www.uniprot.org/uniprotkb/B7Z0B2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } 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organization", "id": "GO:0035317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035317", "evidence": [ { "database": "UniProtKB", "id": "M9PET2", "url": "https://www.uniprot.org/uniprotkb/M9PET2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PET2-1" }, { "uniprot_canonical_ac": "M9PEY2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PEY2", "url": "https://www.uniprot.org/uniprotkb/M9PEY2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 162, "chemical_mass": 18440.0, "gene_names": "Dmel\\CG43880;CG43880;Dmel\\CG43880;Dmel_CG43880;lincRNA.466", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PEY2-1" }, { "uniprot_canonical_ac": "M9PFR8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"UniProtKB", "id": "M9PFR8", "url": "https://www.uniprot.org/uniprotkb/M9PFR8" } ], "pmid": "" }, { "name": "nuclear localization sequence binding", "id": "GO:0008139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008139", "evidence": [ { "database": "UniProtKB", "id": "M9PFR8", "url": "https://www.uniprot.org/uniprotkb/M9PFR8" } ], "pmid": "" }, { "name": "nuclear import signal receptor activity", "id": "GO:0061608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061608", "evidence": [ { "database": "UniProtKB", "id": "M9PFR8", "url": "https://www.uniprot.org/uniprotkb/M9PFR8" } ], "pmid": "" } ], "biological_process": [ { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "M9PFR8", "url": "https://www.uniprot.org/uniprotkb/M9PFR8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PFR8-1" }, { "uniprot_canonical_ac": "M9PG24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PG24", "url": "https://www.uniprot.org/uniprotkb/M9PG24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 11383.0, "gene_names": "Dmel\\CG43931;CG43931;Dmel\\CG43931;Dmel_CG43931", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9PG24-1" }, { "uniprot_canonical_ac": "M9PG80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 555, "chemical_mass": 59143.0, "gene_names": "tj;CG10034;DM13;Dmaf;Dmel\\CG10034;Dmel_CG10034;PL3;TJ;Tj;fs(2)eo-B;fs(2)eo2;fs(2)eoPL3;maf-L;maf1;tj", "protein_name": "", "disease": [ { "disease_id": "DOID:0061029", "name": "Duane retraction syndrome 3", "description": "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.", "url": "https://disease-ontology.org/term/DOID:0061029", "evidence": [ { "id": "0061029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061029" } ], "weight": 0.0 }, { "disease_id": "DOID:0061232", "name": "enhanced S-cone syndrome 2", "description": "A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.", "url": "https://disease-ontology.org/term/DOID:0061232", "evidence": [ { "id": "0061232", "database": "AGR", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": 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renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).", "url": "https://disease-ontology.org/term/DOID:0050450", "evidence": [ { "id": "0050450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050450" } ], "weight": 0.0 }, { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INZ5", "url": "https://www.uniprot.org/uniprotkb/Q8INZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 763, "chemical_mass": 88344.0, "gene_names": "Dmel\\CG31784;CG31784;Dmel\\CG31784;Dmel_CG31784;NEST:bs05c10", "protein_name": "CCDC113/CCDC96 coiled-coil domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8INZ5-1" }, { "uniprot_canonical_ac": "Q8IP88-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IP88", "url": "https://www.uniprot.org/uniprotkb/Q8IP88" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 20806.0, "gene_names": "Dmel\\CG31862;CG31862;Dmel\\CG31862;Dmel_CG31862", 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"0061118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061118" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:13891", "name": "bird fancier's lung", "description": "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.", "url": "https://disease-ontology.org/term/DOID:13891", "evidence": [ { "id": "13891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13891" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3030", "name": "mucinous adenocarcinoma", "description": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.", "url": "https://disease-ontology.org/term/DOID:3030", "evidence": [ { "id": "3030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3030" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8622", "name": "measles", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.", "url": "https://disease-ontology.org/term/DOID:8622", "evidence": [ { "id": "8622", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8622" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" }, { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "biological_process": [ { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IR52-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Thr548", "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": 548, "start_aa": "Thr", "end_pos": 548, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr548", "evidence": [ { "id": 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], "record_id": "Q8IR52-1" }, { "uniprot_canonical_ac": "Q8IR64-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR64", "url": "https://www.uniprot.org/uniprotkb/Q8IR64" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 144, "chemical_mass": 16833.0, "gene_names": "Dmel\\CG32625;CG32625;Dmel\\CG32625;Dmel_CG32625", "protein_name": "CHHC U11-48K-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8IR64", "url": "https://www.uniprot.org/uniprotkb/Q8IR64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR64-1" }, { "uniprot_canonical_ac": "Q8IRB1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRB1", "url": "https://www.uniprot.org/uniprotkb/Q8IRB1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 18448.0, "gene_names": "Dmel\\CG32248;CG32248;Dmel\\CG32248;Dmel_CG32248", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRB1-1" }, { "uniprot_canonical_ac": "Q8IRE3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1320, "chemical_mass": 149116.0, "gene_names": "gry;CG17569;Dmel\\CG17569;Dmel_CG17569;TRAPPC11;gryz;gry;l(3)63Bd", "protein_name": "Trafficking protein particle complex subunit 11", "disease": [ { "disease_id": "DOID:0110287", "name": "autosomal recessive limb-girdle muscular dystrophy type 2S", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0110287", "evidence": [ { "id": "0110287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110287" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "TRAPPIII protein complex", "id": "GO:1990072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990072", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IRE3-1", "start_pos": "1060", "end_pos": "1060", "site_lbl": "Thr1060", "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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"sites": [], "record_id": "Q9VEW9-1" }, { "uniprot_canonical_ac": "Q9VFM5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFM5", "url": "https://www.uniprot.org/uniprotkb/Q9VFM5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1024, "chemical_mass": 113188.0, "gene_names": "Dmel\\CG14355;CG14355;Dmel\\CG14355;Dmel_CG14355", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFM5-1" }, { "uniprot_canonical_ac": "Q9VFP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFP9", "url": "https://www.uniprot.org/uniprotkb/Q9VFP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 313, "chemical_mass": 35637.0, "gene_names": 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"uniprot_canonical_ac": "Q9VFY3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFY3", "url": "https://www.uniprot.org/uniprotkb/Q9VFY3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 239, "chemical_mass": 27185.0, "gene_names": "BcDNA:AT26376;BcDNA:AT26376;CG8141;Dmel\\CG8141;Dmel_CG8141", "protein_name": "RING-type E3 ubiquitin transferase", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VFY3", "url": "https://www.uniprot.org/uniprotkb/Q9VFY3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VFY3", "url": 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}, { "uniprot_canonical_ac": "Q9VGJ2-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Thr44", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 44, "start_aa": "Thr", "end_pos": 44, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr44", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VGJ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VGJ2" } ] } ] } ], "record_id": "Q9VGJ2-1" }, { "uniprot_canonical_ac": "Q9VGT8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGT8", "url": 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"database": "UniProtKB", "id": "Q9VJX1", "url": "https://www.uniprot.org/uniprotkb/Q9VJX1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 22517.0, "gene_names": "Dmel\\CG9263;CG9263;Dmel\\CG9263;Dmel_CG9263", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJX1-1" }, { "uniprot_canonical_ac": "Q9VJY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJY0", "url": "https://www.uniprot.org/uniprotkb/Q9VJY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 22620.0, "gene_names": "Dmel\\CG16956;CG16956;Dmel\\CG16956;Dmel_CG16956", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJY0-1" }, { 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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 } ], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC7", "url": "https://www.uniprot.org/uniprotkb/Q9VPC7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC7", "url": "https://www.uniprot.org/uniprotkb/Q9VPC7" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9VPC7", "url": "https://www.uniprot.org/uniprotkb/Q9VPC7" } ], "pmid": "" } 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"Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "inositol-1,4,5-trisphosphate 3-kinase activity", "id": "GO:0008440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008440", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "inositol-1,4,5-trisphosphate 6-kinase activity", "id": "GO:0000823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000823", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "inositol-1,3,4,6-tetrakisphosphate 5-kinase activity", "id": "GO:0047326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047326", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "inositol tetrakisphosphate kinase activity", "id": "GO:0051765", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VPR6-1" }, { "uniprot_canonical_ac": "Q9VQ01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 32575.0, "gene_names": "Dmel\\CG5556;CG5556;Dmel\\CG5556;Dmel_CG5556", "protein_name": "", "disease": [], "molecular_function": [ { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "pmid": "" }, { "name": "pseudouridine 5'-phosphatase activity", "id": "GO:1990738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990738", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQ01-1" }, { "uniprot_canonical_ac": "Q9VQH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQH0", "url": "https://www.uniprot.org/uniprotkb/Q9VQH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 554, "chemical_mass": 61419.0, "gene_names": "Pykl2;CG2964;Dmel\\CG2964;Dmel_CG2964", 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"gene_names": "Dmel\\CG8563;CG8563;Dmel\\CG8563;Dmel_CG8563", "protein_name": "Peptidase M14 domain-containing protein", "disease": [ { "disease_id": "DOID:0060752", "name": "familial temporal lobe epilepsy 5", "description": "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.", "url": "https://disease-ontology.org/term/DOID:0060752", "evidence": [ { "id": "0060752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060752" } ], "weight": 0.0 }, { "disease_id": "DOID:0111308", "name": "familial febrile seizures 11", "description": "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.", "url": "https://disease-ontology.org/term/DOID:0111308", "evidence": [ { "id": "0111308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111308" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet 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centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "Q9VTM9", "url": "https://www.uniprot.org/uniprotkb/Q9VTM9" } ], "pmid": "" }, { "name": "establishment of meiotic sister chromatid cohesion", "id": "GO:0034089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034089", "evidence": [ { "database": "UniProtKB", "id": "Q9VTM9", "url": "https://www.uniprot.org/uniprotkb/Q9VTM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTM9-1" }, { "uniprot_canonical_ac": "Q9VU38-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VU38", "url": "https://www.uniprot.org/uniprotkb/Q9VU38" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 345, "chemical_mass": 37774.0, "gene_names": 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"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": "Q9W0N1", "url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0N1-1" }, { "uniprot_canonical_ac": "Q9W0X9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0X9", "url": "https://www.uniprot.org/uniprotkb/Q9W0X9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 23791.0, "gene_names": "CT12588;CG3770;CT12588;Dmel\\CG3770;Dmel_CG3770", "protein_name": "Lipoma HMGIC fusion partner-like 2 protein", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { 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[], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W161-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "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": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W161-1" }, { "uniprot_canonical_ac": "Q9W1B3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1B3", "url": "https://www.uniprot.org/uniprotkb/Q9W1B3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", 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gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0111707", "evidence": [ { "id": "0111707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111707" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": 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"description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" } ], "molecular_function": [ { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1M4-1" }, { "uniprot_canonical_ac": "Q9W1W5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1W5", "url": "https://www.uniprot.org/uniprotkb/Q9W1W5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 265, "chemical_mass": 28649.0, "gene_names": "SPH195;CG9897;Dmel\\CG9897;Dmel_CG9897", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W1W5", "url": "https://www.uniprot.org/uniprotkb/Q9W1W5" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9W1W5", "url": "https://www.uniprot.org/uniprotkb/Q9W1W5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1W5-1" }, { "uniprot_canonical_ac": "Q9W2E8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 110, "chemical_mass": 12091.0, "gene_names": "ND-B12;10320;CG10320;Dmel\\CG10320;Dmel_CG10320;NB2M;ND-B12;NDUFB3;Q9W2E8;anon-EST:Posey47;anon-EST:Posey84;dNDUFB3", "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3", "disease": [ { "disease_id": "DOID:0112067", "name": "nuclear type mitochondrial complex I deficiency 25", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1.", "url": "https://disease-ontology.org/term/DOID:0112067", "evidence": [ { "id": "0112067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112067" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E8", "url": "https://www.uniprot.org/uniprotkb/Q9W2E8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2E8-1" }, { "uniprot_canonical_ac": "Q9W2F4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2F4", "url": "https://www.uniprot.org/uniprotkb/Q9W2F4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 562, "chemical_mass": 63733.0, "gene_names": "clt;CG9858;Dmel\\CG9858;Dmel_CG9858;Est-R;anon-57Fb;clt", "protein_name": "carboxylesterase", "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: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:3119", "name": "gastrointestinal system cancer", "description": "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:3119", "evidence": [ { "id": "3119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3119" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "male mating behavior", "id": "GO:0060179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060179", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F4", "url": "https://www.uniprot.org/uniprotkb/Q9W2F4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F4", "url": "https://www.uniprot.org/uniprotkb/Q9W2F4" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F4", "url": "https://www.uniprot.org/uniprotkb/Q9W2F4" } ], "pmid": "" }, { "name": "carboxylesterase activity", "id": "GO:0106435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106435", "evidence": [ { "database": "UniProtKB", "id": "Q9W2F4", "url": "https://www.uniprot.org/uniprotkb/Q9W2F4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2F4-1" }, { "uniprot_canonical_ac": "Q9W2L7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2L7", "url": "https://www.uniprot.org/uniprotkb/Q9W2L7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 975, "chemical_mass": 111064.0, "gene_names": "CG15654;CG15655;CG15654;CG15655;CG34396;Dmel\\CG34396;Dmel_CG34396;anon-WO0109301.16;anon-WO0109301.17;anon-WO0109301.1", "protein_name": "Potassium channel domain-containing protein", "disease": [], "molecular_function": [ { "name": "outward rectifier potassium channel activity", "id": "GO:0015271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015271", "evidence": [ { "database": "UniProtKB", "id": "Q9W2L7", "url": "https://www.uniprot.org/uniprotkb/Q9W2L7" } ], "pmid": "" }, { "name": "potassium ion leak channel activity", "id": "GO:0022841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022841", "evidence": [ { "database": "UniProtKB", "id": "Q9W2L7", "url": "https://www.uniprot.org/uniprotkb/Q9W2L7" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q9W2L7", "url": "https://www.uniprot.org/uniprotkb/Q9W2L7" } ], "pmid": "" } ], 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 76, "chemical_mass": 8937.0, "gene_names": "Dmel\\CG44869;CG44869;Dmel\\CG44869;Dmel_CG44869", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2J683-1" }, { "uniprot_canonical_ac": "X2JAQ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JAQ5", "url": "https://www.uniprot.org/uniprotkb/X2JAQ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 214, "chemical_mass": 24376.0, "gene_names": "Dmel\\CG14434;CG14434;Dmel\\CG14434;Dmel_CG14434", "protein_name": "CYTH domain-containing protein", "disease": [], "molecular_function": [ { "name": "pyrophosphatase activity", "id": "GO:0016462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016462", "evidence": [ { "database": "UniProtKB", "id": "X2JAQ5", "url": "https://www.uniprot.org/uniprotkb/X2JAQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2JAQ5-1" }, { "uniprot_canonical_ac": "X2JD74-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JD74", "url": "https://www.uniprot.org/uniprotkb/X2JD74" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 118, "chemical_mass": 13392.0, "gene_names": "Dmel\\CG45116;CG45116;Dmel\\CG45116;Dmel_CG45116;FBgn0266591", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2JD74-1" }, { "uniprot_canonical_ac": "X2JDD8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JDD8", "url": "https://www.uniprot.org/uniprotkb/X2JDD8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 121, "chemical_mass": 13616.0, "gene_names": "Dmel\\CG45603;CG45603;Dmel\\CG45603;Dmel_CG45603;FBgn0267163", "protein_name": "Secreted protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2JDD8-1" }, { "uniprot_canonical_ac": "X2JDZ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 577, "chemical_mass": 64423.0, "gene_names": "PICK1;CG6167;Dmel\\CG6167;Dmel_CG6167;PICK1;dPICK1", "protein_name": "PRKCA-binding protein", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": 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], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "pmid": "" }, { "name": "membrane curvature sensor activity", "id": "GO:0140090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140090", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "pmid": "" }, { "name": 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organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "X2JDZ1", "url": "https://www.uniprot.org/uniprotkb/X2JDZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2JDZ1-1" }, { "uniprot_canonical_ac": "X2JEC8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "X2JEC8", "url": "https://www.uniprot.org/uniprotkb/X2JEC8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 10253.0, "gene_names": "Dmel\\CG44303;CG3184;CG44303;Dmel\\CG44303;Dmel_CG44303", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "X2JEC8-1" }, { "uniprot_canonical_ac": "X2JEG0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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}, { "uniprot_canonical_ac": "P13582-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "In EA 125.3; results in ventralized embryos.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "In EAQGDS; results in lateralised embryos.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Gly336", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "In EA 12A; results in weakly ventralized embryos with ventral denticle bands that are approximately normal in width and the filzkorper have the normal tubular morphology.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of catalytic activity results in defective dorsoventral patterning characterized by a complete dorsalization in which there is no ventral furrow or headfold, cells at the posterior do not migrate, and multiple symmetric folds appear along the anterior-posterior axis of the embryo.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": 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elements (e.g. dorsal cuticle) and the most ventral pattern element (mesoderm) are absent.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Gly363", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "In EA 8; results in completely dorsalized embryos.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Gly371", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "In EA 161.13; results in weakly ventralized embryos with ventral denticle bands that are approximately normal in width and the filzkorper have the normal tubular morphology.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Pro373", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "I", "comment": "Probable loss of catalytic activity results in partially defective dorsoventral patterning; during gastrulation, shows defective ventralization; in late embryogenesis results in moderately dorsalized embryos presenting defective lateral filzkorper, head skeleton and ventral denticles.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "In EA 5022; probable loss of catalytic activity results in partially defective dorsoventral patterning; in gastrulation, shows an intermediate ventralization with the headfold prominent on the dorsal side and some anteriorward displacement of posterior cells along the dorsal site; in late embryogenesis, shows partial filzkorper and head skeleton, as well as ventral denticles erroneously in dorsal position.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] }, { "sequence_org": "P", "sequence_mut": "Y", "comment": "Probable loss of catalytic activity results in partially defective dorsoventral patterning; during gastrulation, shows defective ventralization; in late embryogenesis results in moderately dorsalized embryos presenting defective lateral filzkorper, head skeleton and ventral denticles.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" } ] } ] } ], "record_id": "P13582-1" }, { "uniprot_canonical_ac": "P09478-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P09478", "url": "https://www.uniprot.org/uniprotkb/P09478" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 567, "chemical_mass": 64019.0, "gene_names": "nAChRalpha1;AChRalpha1;AChR;AChr;ALS;ALs;Acr96Aa;Acr96A;AcrB;CG5610-PA;CG5610;Dalpha1 nAChR;Dalpha1;Dmel\\CG5610;Dmel_CG5610;EMS1;NAcRa96Aa;alpha-like;alpha1;als;dALS;nAChR-alpha96Aa;nAChRDalpha1;nAChRa1;nAChRalpha-96Aa;nAChRalpha1;nAChR;nAcRalpha-96Aa;nAcRs;nAcr96Aa", "protein_name": "Acetylcholine receptor subunit alpha-like 1", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060681", "name": "autosomal dominant nocturnal frontal lobe epilepsy", "description": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.", "url": "https://disease-ontology.org/term/DOID:0060681", "evidence": [ { "id": "0060681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060681" } ], "weight": 0.0 }, { "disease_id": "DOID:0060682", "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0060682", "evidence": [ { "id": "0060682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060682" } ], "weight": 0.0 }, { "disease_id": "DOID:0060684", "name": "autosomal dominant nocturnal frontal lobe epilepsy 3", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0060684", "evidence": [ { "id": "0060684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060684" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110664", "name": "congenital myasthenic syndrome 3C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110664", "evidence": [ { "id": "0110664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110664" } ], "weight": 0.0 }, { "disease_id": "DOID:0110665", "name": "congenital myasthenic syndrome 3B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110665", "evidence": [ { "id": "0110665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110665" } ], "weight": 0.0 }, { "disease_id": "DOID:0110666", "name": "congenital myasthenic syndrome 3A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110666", "evidence": [ { "id": "0110666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110666" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": 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"url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:0110680", "name": "congenital myasthenic syndrome 2C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110680", "evidence": [ { "id": "0110680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110680" } ], "weight": 0.0 }, { "disease_id": "DOID:0110681", "name": "congenital myasthenic syndrome 2A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110681", "evidence": [ { "id": "0110681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110681" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", 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lengths of circadian rhythms and displays an increase in hypophosphorylated per. 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The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:0110927", "name": "nemaline myopathy 3", "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0110927", "evidence": [ { "id": "0110927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110927" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3191", "name": "nemaline myopathy", "description": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.", "url": "https://disease-ontology.org/term/DOID:3191", "evidence": [ { "id": "3191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3191" } ], "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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P10981", "url": "https://www.uniprot.org/uniprotkb/P10981" } ], "pmid": "" } ], "binding_glycans": [], 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"UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "amine transmembrane transporter activity", "id": "GO:0005275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005275", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "ABC-type guanine transporter activity", "id": "GO:0008558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008558", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "guanine transmembrane transporter activity", "id": "GO:0015208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015208", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "pigment binding", "id": "GO:0031409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031409", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "aminergic neurotransmitter loading into synaptic vesicle", "id": "GO:0015842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015842", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "guanine transport", "id": "GO:0015854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015854", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" }, { "name": "eye pigment precursor transport", "id": "GO:0006856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006856", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12428-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Gly578", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "In T50; normal eye color. Eyes are brown due to a reduction in red pigment production in a w/white co2 mutant background.", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" }, { "database": "PubMed", "id": "8144619", "url": "https://glygen.org/publication/PubMed/8144619" } ] } ] }, { "uniprot_canonical_ac": "P12428-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Asn638", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "In 6; normal eye color. Eyes are brown due to a reduction in red pigment production in a w/white co2 mutant background.", "evidence": [ { "database": "UniProtKB", "id": "P12428", "url": "https://www.uniprot.org/uniprotkb/P12428" }, { "database": "PubMed", "id": "8144619", "url": "https://glygen.org/publication/PubMed/8144619" } ] } ] } ], "record_id": "P12428-1" }, { "uniprot_canonical_ac": "O46200-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O46200", "url": "https://www.uniprot.org/uniprotkb/O46200" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 81, "chemical_mass": 8983.0, "gene_names": "Acp63F;64A;Acp63F/64A;Acp63F;Acp63f;Acp63;CG10852;Dmel\\CG10852;Dmel_CG10852;acp63F", "protein_name": "Accessory gland protein Acp63F", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": 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"https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "A1Z9L3", "url": "https://www.uniprot.org/uniprotkb/A1Z9L3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z9L3-1" }, { "uniprot_canonical_ac": "A1Z9S1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 147, "chemical_mass": 16153.0, "gene_names": "Blos1;BLOS1;Blos1;CG10127;CG30077;Dmel\\CG30077;NP_725401;blos1", "protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 1", "disease": [ { "disease_id": "DOID:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", "url": "https://disease-ontology.org/term/DOID:3753", "evidence": [ { "id": "3753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ], "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:896", "name": "metal metabolism disorder", "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.", "url": 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"GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" } ], "cellular_component": [ { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "BLOC-1 complex", "id": "GO:0031083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031083", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z9S1-1" }, { "uniprot_canonical_ac": "A1ZAI5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 625, "chemical_mass": 69683.0, "gene_names": "Dmel\\CG5065;2;CG5065;Dmel\\CG5065;Dmel_CG5065;FAR1/2;FAR1", "protein_name": "Putative fatty acyl-CoA reductase CG5065", "disease": [ { "disease_id": "DOID:0081243", "name": "rhizomelic chondrodysplasia punctate type 4", "description": "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.", "url": "https://disease-ontology.org/term/DOID:0081243", "evidence": [ { "id": "0081243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081243" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" } ], "biological_process": [ { "name": "ether lipid biosynthetic process", "id": "GO:0008611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008611", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" }, { "name": "wax biosynthetic process", "id": "GO:0010025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010025", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" }, { "name": "fatty acid derivative metabolic process", "id": "GO:1901568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901568", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" } ], "molecular_function": [ { "name": "alcohol-forming very long-chain fatty acyl-CoA reductase activity", "id": "GO:0080019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080019", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" }, { "name": "alcohol-forming long-chain fatty acyl-CoA reductase activity", "id": "GO:0102965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102965", "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAI5-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "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": 76, "start_aa": "Thr", "end_pos": 76, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr76", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1ZAI5-1" }, { "uniprot_canonical_ac": "A1ZAV1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAV1", "url": "https://www.uniprot.org/uniprotkb/A1ZAV1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1336, "chemical_mass": 154424.0, "gene_names": "Cc2d2a;CC2D2A;CG18432;CG18631;CG43370;Cc2d2a;Dmel\\CG43370;MKS6;Mks6;cc2d2a", "protein_name": "Coiled-coil and C2 domain-containing protein 2A", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050777", "name": "Joubert syndrome", "description": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.", "url": "https://disease-ontology.org/term/DOID:0050777", "evidence": [ { "id": "0050777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050777" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0061105", "name": "retinitis pigmentosa 93", "description": "A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.", "url": "https://disease-ontology.org/term/DOID:0061105", "evidence": [ { "id": "0061105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061105" } ], "weight": 0.0 }, { "disease_id": "DOID:0070120", "name": "Meckel syndrome 6", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.", "url": "https://disease-ontology.org/term/DOID:0070120", "evidence": [ { "id": "0070120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070120" } ], "weight": 0.0 }, { "disease_id": "DOID:0111004", "name": "Joubert syndrome 9", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on 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"url": "https://www.uniprot.org/uniprotkb/P02833" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P02833", "url": "https://www.uniprot.org/uniprotkb/P02833" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P02833", "url": "https://www.uniprot.org/uniprotkb/P02833" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02833-1" }, { "uniprot_canonical_ac": "P07764-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07764", "url": "https://www.uniprot.org/uniprotkb/P07764" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 361, "chemical_mass": 39047.0, "gene_names": "Aldo;ALDOA;ALD;Ald1;Aldolase;Ald;BcDNA:LP07735;CG6058;Dmel\\CG6058;Dmel_CG6058;FBA;T12;T4;T6;T7;ald;dALDOA", "protein_name": "Fructose-bisphosphate aldolase", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": 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"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": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "super elongation complex", "id": "GO:0032783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032783", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "cyclin/CDK positive transcription elongation factor complex", "id": "GO:0008024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008024", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "P-TEFb complex", "id": "GO:0070691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070691", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" } ], "molecular_function": [ { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O96433-1", "start_pos": "916", "end_pos": "916", "site_lbl": "Ser916", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O96433", "url": "https://www.uniprot.org/uniprotkb/O96433" }, { "database": "PubMed", "id": "18327897", "url": 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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:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02574-1" }, { "uniprot_canonical_ac": "P07487-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 35369.0, "gene_names": "Gapdh2;CG8893;Dmel\\CG8893;Dmel_CG8893;GA3PDH;GADPH;GAPDH II;GAPDH2;GAPDH;GAP;Gapdh-2;Gapdh13F;Gapdh2;Gapdh;Gapd;dmGAPDH;gapdh2;gapdh", "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase 2", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 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of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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": "glyceraldehyde-3-phosphate metabolic process", "id": "GO:0019682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019682", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 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"https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "programmed cell death involved in cell development", "id": "GO:0010623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010623", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "negative regulation of Toll signaling pathway", "id": "GO:0045751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045751", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "ovarian nurse cell to oocyte transport", "id": "GO:0007300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007300", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "nurse cell apoptotic process", "id": "GO:0045476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045476", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "negative regulation of neuromuscular synaptic transmission", "id": "GO:1900074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900074", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "BIR domain binding", "id": "GO:1990525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990525", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O02002-1" }, { "uniprot_canonical_ac": "O02195-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 36160.0, "gene_names": "eIF3i;CG8882;DmTRIP;Dmel\\CG8882;SN2-9;TRIP1;Trip1;eIF-3beta;eIF-3i;eIF3-S2;eIF3i;eif3-S2", "protein_name": "Eukaryotic translation initiation factor 3 subunit I", "disease": [], "biological_process": [ { "name": "cytoplasmic translational initiation", "id": "GO:0002183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002183", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "formation of cytoplasmic translation initiation complex", "id": "GO:0001732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001732", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" } ], "cellular_component": [ { "name": "eukaryotic 43S preinitiation complex", "id": "GO:0016282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016282", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "eukaryotic 48S preinitiation complex", "id": "GO:0033290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033290", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex, eIF3m", "id": "GO:0071541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071541", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "O02195", "url": "https://www.uniprot.org/uniprotkb/O02195" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O02195-1" }, { "uniprot_canonical_ac": "O02649-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O02649", "url": "https://www.uniprot.org/uniprotkb/O02649" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 573, "chemical_mass": 60809.0, "gene_names": "Hsp60A;12;BP5;CG12101;Cpn60;Dm10A;DmHsp60;Dmel\\CG12101;Dmhsp60;G62;HSP60A;HSP60;Hsp 60;Hsp60A;Hsp60;Hsp64;IEF16;Mmp-P1;SSP 7506;cpn60;d-hsp60;hsp60A;hsp60;l(1)10Ac;l(1)BP5;l(1)G8;l(1)HM21;l(1)L12;l(1)dp025", "protein_name": "Heat shock protein 60A", "disease": [ { "disease_id": "DOID:0060789", "name": "hypomyelinating leukodystrophy 4", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0060789", "evidence": [ { "id": "0060789", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060789" } ], "weight": 0.0 }, { "disease_id": "DOID:0110766", "name": "hereditary spastic paraplegia 13", "description": "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0110766", "evidence": [ { "id": "0110766", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110766" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy 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"https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the 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blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ATP synthesis coupled electron transport", "id": "GO:0042773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042773", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" }, { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" }, { "name": "cytochrome-c oxidase activity", "id": "GO:0004129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004129", "evidence": [ { "database": "UniProtKB", "id": "P00408", "url": "https://www.uniprot.org/uniprotkb/P00408" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00408-1" }, { "uniprot_canonical_ac": "P04755-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 521, "chemical_mass": 59916.0, "gene_names": "nAChRbeta1;AChR64B;AChR;ARD;AchR64B;Acr64B;AcrD;Ard;CG11348-PA;CG11348;CG12606;Dbeta1;Dmel\\CG11348;Dmel_CG11348;ard;beta 64B;beta1 nAChR;nAChR-beta64B;nAChRDbeta1;nAChR_beta1;nAChRbeta1;nAChR;nAcR-beta-64B;nAcR64B;nAcRbeta-64B", "protein_name": "Acetylcholine receptor subunit beta-like 1", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060681", "name": "autosomal dominant nocturnal frontal lobe epilepsy", "description": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.", "url": "https://disease-ontology.org/term/DOID:0060681", "evidence": [ { "id": "0060681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060681" } ], "weight": 0.0 }, { "disease_id": "DOID:0060684", "name": "autosomal dominant nocturnal frontal lobe epilepsy 3", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0060684", "evidence": [ { "id": "0060684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060684" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0080110", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome", "description": "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the 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progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110663", "evidence": [ { "id": "0110663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110663" } ], "weight": 0.0 }, { "disease_id": "DOID:0110664", "name": "congenital myasthenic syndrome 3C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110664", "evidence": [ { "id": "0110664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110664" } ], "weight": 0.0 }, { "disease_id": "DOID:0110665", "name": "congenital myasthenic syndrome 3B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110665", "evidence": [ { "id": "0110665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110665" } ], "weight": 0.0 }, { "disease_id": "DOID:0110666", "name": "congenital myasthenic syndrome 3A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110666", "evidence": [ { "id": "0110666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110666" } ], "weight": 0.0 }, { "disease_id": "DOID:0110677", "name": "congenital myasthenic syndrome 4B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110677", "evidence": [ { "id": "0110677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110677" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:0110680", "name": "congenital myasthenic syndrome 2C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110680", "evidence": [ { "id": "0110680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110680" } ], "weight": 0.0 }, { "disease_id": "DOID:0110681", "name": "congenital myasthenic syndrome 2A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110681", "evidence": [ { "id": "0110681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110681" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "weight": 0.0 }, { "disease_id": "DOID: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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "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": [ { 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nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0060989", "evidence": [ { "id": "0060989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060989" } ], "weight": 0.0 }, { "disease_id": "DOID:0080015", "name": "physical disorder", "description": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.", "url": "https://disease-ontology.org/term/DOID:0080015", "evidence": [ { "id": "0080015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080015" } ], "weight": 0.0 }, { "disease_id": "DOID:0080205", "name": "congenital anomalies of the kidney and urinary tract", "description": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.", "url": "https://disease-ontology.org/term/DOID:0080205", "evidence": [ { "id": "0080205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080205" } ], "weight": 0.0 }, { "disease_id": "DOID:0080207", "name": "congenital anomalies of the kidney and urinary tract 2", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0080207", "evidence": [ { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" } ], "weight": 0.0 }, { "disease_id": "DOID:0080313", "name": "cleft palate-lateral synechia syndrome", "description": "A physical disorder that is characterized by fusion of maxilla and mandible.", "url": "https://disease-ontology.org/term/DOID:0080313", "evidence": [ { "id": "0080313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080313" } ], "weight": 0.0 }, { "disease_id": "DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.", "url": "https://disease-ontology.org/term/DOID:0080404", "evidence": [ { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "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:0111029", "name": "hemochromatosis type 1", "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.", "url": "https://disease-ontology.org/term/DOID:0111029", "evidence": [ { "id": "0111029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111029" } ], "weight": 0.0 }, { "disease_id": "DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": "DOID:0111805", "name": "syndromic microphthalmia 6", "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.", "url": "https://disease-ontology.org/term/DOID:0111805", "evidence": [ { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:1222", "name": "cartilage disease", "description": "A connective tissue disease that is located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:1222", "evidence": [ { "id": "1222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1222" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID: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:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.", "url": "https://disease-ontology.org/term/DOID:18", "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ], "weight": 0.0 }, { "disease_id": "DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:540", "name": "strabismus", "description": "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.", "url": "https://disease-ontology.org/term/DOID:540", "evidence": [ { "id": "540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:540" } ], "weight": 0.0 }, { "disease_id": "DOID:668", "name": "myositis ossificans", "description": "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.", "url": "https://disease-ontology.org/term/DOID:668", "evidence": [ { "id": "668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:668" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "head morphogenesis", "id": "GO:0060323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060323", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "embryonic hindgut morphogenesis", "id": "GO:0048619", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048619", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "cardioblast differentiation", "id": "GO:0010002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010002", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "male germ-line stem cell population maintenance", "id": "GO:0036098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": "GO:0009950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009950", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "zygotic specification of dorsal/ventral axis", "id": "GO:0007352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007352", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "maternal specification of dorsal/ventral axis, oocyte, soma encoded", "id": "GO:0007313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007313", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "larval lymph gland hemocyte differentiation", "id": "GO:0035168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035168", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "eye-antennal disc development", "id": "GO:0035214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035214", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "amnioserosa formation", "id": "GO:0007378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007378", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "hemocyte development", "id": "GO:0007516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007516", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "spectrosome organization", "id": "GO:0030721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030721", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "fusion cell fate specification", "id": "GO:0035156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035156", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of tube diameter, open tracheal system", "id": "GO:0035158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035158", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "labial disc development", "id": "GO:0035217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035217", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc anterior/posterior pattern formation", "id": "GO:0035224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035224", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc sexually dimorphic development", "id": "GO:0035263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035263", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing and notum subfield formation", "id": "GO:0035309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035309", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "germ-line stem cell division", "id": "GO:0042078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042078", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of imaginal disc growth", "id": "GO:0045570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045570", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "positive regulation of imaginal disc growth", "id": "GO:0045572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045572", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "lymph gland development", "id": "GO:0048542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048542", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "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": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "pericardial nephrocyte differentiation", "id": "GO:0061320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061320", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "anterior Malpighian tubule development", "id": "GO:0061327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061327", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "ectodermal cell fate specification", "id": "GO:0001715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001715", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "cell chemotaxis involved in Malpighian tubule morphogenesis", "id": "GO:0061352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061352", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dense core granule lumen", "id": "GO:0098898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098898", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "BMP receptor binding", "id": "GO:0070700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070700", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "morphogen activity", "id": "GO:0016015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016015", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P07713-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "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": 120, 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"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": 377, "start_aa": "Asn", "end_pos": 377, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn377", "evidence": [ { "id": "P07713", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P07713#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P07713-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Asn529", "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": 529, "start_aa": "Asn", "end_pos": 529, "end_aa": "Asn", "residue": "Asn", 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"https://disease-ontology.org/term/DOID:13129", "evidence": [ { "id": "13129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "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. 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 719, "chemical_mass": 78548.0, "gene_names": "Rm62;4136;CG10279;DmRH8;Dmel\\CG10279;Dmel_CG10279;Dmp68;Lip;RM62;Rm62;dmP68;l(3)01086;l(3)j3D2;l(3)j3D5;l(3)rG338;l(3)s5196;p62;p68;rm62", "protein_name": "ATP-dependent RNA helicase p62", "disease": [ { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:3151", "name": "skin squamous cell carcinoma", "description": "A skin carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:3151", "evidence": [ { "id": "3151", 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"https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "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": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of defense response to virus", "id": "GO:0050688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050688", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "alternative mRNA splicing, via spliceosome", "id": "GO:0000380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000380", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "siRNA-mediated heterochromatin formation", "id": "GO:0141194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141194", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P19109-1" }, { "uniprot_canonical_ac": "P20482-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P20482", "url": "https://www.uniprot.org/uniprotkb/P20482" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1383, "chemical_mass": 147412.0, "gene_names": "cnc;5134;BcDNA:RE05559;CG13826;CG17894;CG43286;CG4566;CG4578;CNC_DROME;CNC;CnCC;CnC;Cnc-C;CncC;Cncc;Cnc;DM12;Dmel\\CG43286;Dmel_CG43286;NRF2;NRF;Nrf2;anon-WO0153538.6;anon-WO0153538.7;cnc-C;cnc14;cncC/Nrf2;cncC;cncc;cnc;dNrf2;l(3)03921;l(3)j5E7;nrf2", "protein_name": "Segmentation protein cap'n'collar", "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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. 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"Hr3;12.6;2.4;CG11823;CG12208;CG33183;DHR3;Dhr3;DmHr3;DmRORalpha;Dmel\\CG33183;Dmel_CG33183;D;HR3;Hr3;Hr46;NR1F4;dHR3;dhr3;hr46;l(2)46CFi;l(2)k09242", "protein_name": "Probable nuclear hormone receptor HR3", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 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During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.", "url": "https://disease-ontology.org/term/DOID:0080826", "evidence": [ { "id": "0080826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080826" } ], "weight": 0.0 }, { "disease_id": "DOID:0111940", "name": "immunodeficiency 42", "description": "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.", "url": "https://disease-ontology.org/term/DOID:0111940", "evidence": [ { "id": "0111940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111940" } ], "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: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. 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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": "Q7K0S9", "url": "https://www.uniprot.org/uniprotkb/Q7K0S9" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q7K0S9", "url": "https://www.uniprot.org/uniprotkb/Q7K0S9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7K0S9", "url": "https://www.uniprot.org/uniprotkb/Q7K0S9" } ], "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": "Q7K0S9", "url": 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}, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "muscle cell fate specification", "id": "GO:0042694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042694", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "embryonic development via the syncytial blastoderm", "id": "GO:0001700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001700", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": 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development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "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": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "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": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P56721-1" }, { "uniprot_canonical_ac": "P16376-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16376", "url": "https://www.uniprot.org/uniprotkb/P16376" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 746, "chemical_mass": 76814.0, "gene_names": "svp;0005/12;0042/01;0106/18;0114/20;01;0351/01;0598/01;07;0861/07;12;18;20;BcDNA:GH08189;CG11502;CG18158;Dmel\\CG11502;Dmel_CG11502;NR2F3;SVP-1;SVP1;SVP;Seven-up;Svp;ck16;don;l(3)07842;l(3)87Bd;l(3)ck16;l(3)j2E2;l(3)rA028;l(3)rL069;svp", "protein_name": "Steroid receptor seven-up, isoform A", "disease": [ { "disease_id": "DOID:0080943", "name": "46,XX sex reversal 5", "description": "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080943", "evidence": [ { "id": "0080943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080943" } ], "weight": 0.0 }, { "disease_id": "DOID:0112226", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.", "url": "https://disease-ontology.org/term/DOID:0112226", "evidence": [ { "id": "0112226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112226" } ], "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" } ], 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016056", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "autophagic cell death", "id": "GO:0048102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048102", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "centriole replication", "id": "GO:0007099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007099", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "negative regulation of opsin-mediated signaling pathway", "id": "GO:0016059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016059", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "negative regulation of phospholipase C-activating phototransduction signaling pathway", "id": "GO:0016060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016060", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "photoreceptor cell axon guidance", "id": "GO:0072499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072499", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" } ], 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"" }, { "name": "myosin VI complex", "id": "GO:0031476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031476", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin heavy chain binding", "id": "GO:0032036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032036", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin 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"https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "regulation of stem cell differentiation", "id": "GO:2000736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000736", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "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": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "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": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "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": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "larval fat body development", "id": "GO:0007504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007504", "evidence": [ { "database": "UniProtKB", "id": "P27091", "url": "https://www.uniprot.org/uniprotkb/P27091" } ], "pmid": "" }, { "name": "retrograde trans-synaptic signaling", "id": "GO:0098917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098917", "evidence": [ { "database": 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"evidence": [ { "id": "0112010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112010" } ], "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 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"UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "sensory perception of sweet taste", "id": "GO:0050916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050916", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "response to trehalose", "id": "GO:0010353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010353", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "instar larval or pupal development", "id": "GO:0002165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002165", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": 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"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: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: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:9159", "name": "gas gangrene", "description": "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. 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"https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" } ], "biological_process": [ { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin polymerization or depolymerization", "id": "GO:0008154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008154", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07171-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Tyr612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] }, { "uniprot_canonical_ac": "Q07171-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Tyr662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] }, { "uniprot_canonical_ac": "Q07171-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] } ], "record_id": "Q07171-1" }, { "uniprot_canonical_ac": "P16241-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 45927.0, "gene_names": "vvl;CF1A;CG10037;Cf1-a;Cf1a/drifter/vvl;Cf1a/drifter;Cf1a;Cfla;DFR;Dfr/Vvl;Dfr;Dmel\\CG10037;Dmel_CG10037;Drf;VVL;Vv1;Vvl;dfr-vvl;dfr/vvl;dfr;drf;drifter;prd3;sep;ut;vvl/dfr/ut;vvl/dfr;vvl", "protein_name": "POU domain protein CF1A", "disease": [ { "disease_id": 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"id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "brain segmentation", "id": "GO:0035284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035284", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "positive regulation of antimicrobial peptide biosynthetic process", "id": "GO:0002807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002807", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "regulation of antimicrobial peptide biosynthetic process", "id": "GO:0002805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002805", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "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": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "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": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "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": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P16241-1" }, { "uniprot_canonical_ac": "P33244-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1027, "chemical_mass": 108418.0, "gene_names": "ftz-f1;BFTZ-F1;CG13378;CG4059;DEP1;DmFTZ-F1;Dmel\\CG4059;Dmel_CG4059;FIP1;FTZ-F1A;FTZ-F1alpha;FTZ-F1;FTZ-Fl;FTZF1;FTZf1alpha;Ftz-F1;Ftz-f1;Ftzf1;NR5A3;alphaFTZ-F1;alphaFTZF1;alphaftz-f1;bFTZ-F1;beta FTZ-F1;beta Ftz-f1;beta-FTZ-F1;beta-Ftz-F1;betaFTZ-F1;betaFTZF1;betaFtz-F1;betaFtz-f1;betaftz-F1;betaftz-f1;betaftzf1;dFTZ-F1alpha;dFtz-F1alpha;dmFTZ-f1;ftz-F1;ftz-f1alpha;ftz-f1;ftzF1;ftz_f1;ftzf1;l(3)03649", "protein_name": "Nuclear hormone receptor FTZ-F1", "disease": [ { "disease_id": "DOID:0070169", "name": "spermatogenic failure 8", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.", "url": "https://disease-ontology.org/term/DOID:0070169", "evidence": [ { "id": "0070169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070169" } ], "weight": 0.0 }, { "disease_id": "DOID:0080864", "name": "primary ovarian insufficiency 7", "description": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.", "url": "https://disease-ontology.org/term/DOID:0080864", "evidence": [ { "id": "0080864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080864" } ], "weight": 0.0 }, { "disease_id": "DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.", "url": "https://disease-ontology.org/term/DOID:0090070", "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ], "weight": 0.0 }, { "disease_id": "DOID:0111764", "name": "46,XX sex reversal 4", "description": "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.", "url": "https://disease-ontology.org/term/DOID:0111764", "evidence": [ { "id": "0111764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111772", "name": "46,XY sex reversal 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