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"https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU7", "url": "https://www.uniprot.org/uniprotkb/Q9VDU7" } ], "pmid": "" }, { "name": "nicotinamidase activity", "id": "GO:0008936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008936", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU7", "url": "https://www.uniprot.org/uniprotkb/Q9VDU7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VDU7-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Thr245", "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": 245, "start_aa": "Thr", "end_pos": 245, "end_aa": "Thr", "residue": "Thr", "site_lbl": 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melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDW5", "url": "https://www.uniprot.org/uniprotkb/Q9VDW5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 38555.0, "gene_names": "Dmel\\CG15025;CG15025;Dmel\\CG15025;Dmel_CG15025", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDW5-1" }, { "uniprot_canonical_ac": "Q9VDW9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDW9", "url": "https://www.uniprot.org/uniprotkb/Q9VDW9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 382, "chemical_mass": 43892.0, "gene_names": "Dmel\\CG3517;CG3517;Dmel\\CG3517;Dmel_CG3517", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDW9-1" }, { "uniprot_canonical_ac": "Q9VDY7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDY7", "url": "https://www.uniprot.org/uniprotkb/Q9VDY7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 311, "chemical_mass": 35825.0, "gene_names": "Dmel\\CG5250;CG5250;Dmel\\CG5250;Dmel_CG5250", "protein_name": "", "disease": [], "biological_process": [ { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "Q9VDY7", "url": "https://www.uniprot.org/uniprotkb/Q9VDY7" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "Q9VDY7", "url": 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"database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "autophagic cell death", "id": "GO:0048102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048102", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "malate metabolic process", "id": "GO:0006108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006108", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "pupal development", "id": "GO:0035209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035209", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "salivary gland histolysis", "id": "GO:0035070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035070", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", "url": "https://www.uniprot.org/uniprotkb/Q9VEB1" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": "GO:0035096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035096", "evidence": [ { "database": "UniProtKB", "id": "Q9VEB1", 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"protein_name": "", "disease": [], "biological_process": [ { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q9VG24", "url": "https://www.uniprot.org/uniprotkb/Q9VG24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG24-1" }, { "uniprot_canonical_ac": "Q9VG28-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG28", "url": "https://www.uniprot.org/uniprotkb/Q9VG28" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 297, "chemical_mass": 33190.0, "gene_names": "beat-Vc;Beat-Vc;CG14390;Dmel\\CG14390;Dmel_CG14390;beat Vc;beat-Vc", "protein_name": "", "disease": [], "biological_process": [ { "name": "heterophilic cell-cell adhesion via plasma 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{ "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VG46", "url": "https://www.uniprot.org/uniprotkb/Q9VG46" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG46-1" }, { "uniprot_canonical_ac": "Q9VG60-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VG60", "url": "https://www.uniprot.org/uniprotkb/Q9VG60" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 522, "chemical_mass": 59820.0, "gene_names": "Polr3C;CG12267;Dmel\\CG12267;Dmel_CG12267;Polr3C;RPC82;dPolr3c", "protein_name": "DNA-directed RNA polymerase III subunit RPC3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { 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"protein_name": "", "disease": [], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VG65", "url": "https://www.uniprot.org/uniprotkb/Q9VG65" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VG65", "url": "https://www.uniprot.org/uniprotkb/Q9VG65" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VG65-1" }, { "uniprot_canonical_ac": "Q9VGM1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGM1", "url": "https://www.uniprot.org/uniprotkb/Q9VGM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1316, "chemical_mass": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGS6-1" }, { "uniprot_canonical_ac": "Q9VGT9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGT9", "url": "https://www.uniprot.org/uniprotkb/Q9VGT9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 261, "chemical_mass": 28807.0, "gene_names": "SdhCL;CG6629;Dmel\\CG6629;Dmel_CG6629;SdhCL", "protein_name": "", "disease": [ { "disease_id": "DOID:0050773", "name": "paraganglioma", "description": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia.", "url": "https://disease-ontology.org/term/DOID:0050773", "evidence": [ { "id": "0050773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050773" } ], "weight": 0.0 }, { "disease_id": "DOID:0061218", "name": "pheochromocytoma/paraganglioma syndrome 3", "description": "A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene.", "url": "https://disease-ontology.org/term/DOID:0061218", "evidence": [ { "id": "0061218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061218" } ], "weight": 0.0 }, { "disease_id": "DOID:0080533", "name": "Carney-Stratakis syndrome", "description": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.", "url": "https://disease-ontology.org/term/DOID:0080533", "evidence": [ { "id": "0080533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080533" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. 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], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ3" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ3" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "Q9VGZ3", "url": "https://www.uniprot.org/uniprotkb/Q9VGZ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGZ3-1" }, { "uniprot_canonical_ac": "Q9VH28-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH28", "url": "https://www.uniprot.org/uniprotkb/Q9VH28" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 479, "chemical_mass": 53789.0, "gene_names": "Alp13;Alp13;CG5361;Dmel\\CG5361;Dmel_CG5361", "protein_name": "alkaline phosphatase", "disease": [], "molecular_function": [ { "name": "alkaline phosphatase activity", "id": "GO:0004035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004035", "evidence": [ { "database": "UniProtKB", "id": "Q9VH28", "url": "https://www.uniprot.org/uniprotkb/Q9VH28" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHA4-1" }, { "uniprot_canonical_ac": "Q9VHC0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHC0", "url": "https://www.uniprot.org/uniprotkb/Q9VHC0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 374, "chemical_mass": 41849.0, "gene_names": "RnpS1;CG16788;DEK;Dmel\\CG16788;Dmel_CG16788;RNPS1;RnpS1;Rnps1;cg16788;rnps1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC0", "url": "https://www.uniprot.org/uniprotkb/Q9VHC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { 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}, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VM15", "url": "https://www.uniprot.org/uniprotkb/Q9VM15" } ], "pmid": "" }, { "name": "histone H3-K14 acetyltransferase complex", "id": "GO:0036409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036409", "evidence": [ { "database": "UniProtKB", "id": "Q9VM15", "url": "https://www.uniprot.org/uniprotkb/Q9VM15" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VM15", "url": "https://www.uniprot.org/uniprotkb/Q9VM15" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9VM15", "url": "https://www.uniprot.org/uniprotkb/Q9VM15" 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"https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "axon target recognition", "id": "GO:0007412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007412", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" } ], "cellular_component": [ { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": "https://www.uniprot.org/uniprotkb/Q7KVD1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7KVD1", "url": 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"" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" }, { "name": "retrograde transport, endosome to Golgi", "id": "GO:0042147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042147", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" }, { "name": "early endosome to Golgi transport", "id": "GO:0034498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034498", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-3-phosphate binding", "id": "GO:0032266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032266", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q9VQQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VQQ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VQQ6-1" }, { "uniprot_canonical_ac": "Q9W3R9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3R9", "url": "https://www.uniprot.org/uniprotkb/Q9W3R9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1000, "chemical_mass": 109053.0, "gene_names": 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}, { "uniprot_canonical_ac": "Q0KHX7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KHX7", "url": "https://www.uniprot.org/uniprotkb/Q0KHX7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1094, "chemical_mass": 121654.0, "gene_names": "spdi;AAD55419;CG13366;Dmel\\CG13366;Dmel_CG13366;EG:118B3.2;spdi", "protein_name": "", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0080698", "name": "Teebi hypertelorism syndrome 1", 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"uniprot_canonical_ac": "Q2MGN0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 400, "chemical_mass": 45677.0, "gene_names": "Dmel\\CG3065;CG3065;Dmel\\CG3065;Dmel_CG3065", "protein_name": "C2H2-type domain-containing protein", "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": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "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": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "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": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q2MGN0", "url": "https://www.uniprot.org/uniprotkb/Q2MGN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q2MGN0-1" }, { "uniprot_canonical_ac": "Q7KTB0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTB0", "url": "https://www.uniprot.org/uniprotkb/Q7KTB0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 514, "chemical_mass": 56174.0, "gene_names": "BG:DS01368.1;DS01368.1;Dmel\\CG18507;BG:DS01368.1;CG18507;DS01368.1;Dmel\\CG18507;Dmel_CG18507;bg:ds01368", "protein_name": "Transmembrane protein 268", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7KTB0-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Thr110", "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": 110, "start_aa": "Thr", "end_pos": 110, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr110", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q7KTB0-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Thr91", "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": 91, "start_aa": "Thr", "end_pos": 91, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr91", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q7KTB0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7KTB0" }, { "id": "33925313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33925313" } ] } ] } ], "record_id": "Q7KTB0-1" }, { "uniprot_canonical_ac": "Q9VL02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL02", "url": "https://www.uniprot.org/uniprotkb/Q9VL02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 369, "chemical_mass": 41563.0, "gene_names": "nmd;CG5395;DmCG5395;Dmel\\CG5395;Dmel_CG5395;Msp1;Msp;Nmd;anon-EST:Liang-1.79;clone 1.79;l(2)08774;ms(2)4;ms(2)ry4;nmd", "protein_name": "", "disease": [ { "disease_id": "DOID:0080581", "name": "hyperekplexia 4", "description": "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.", "url": "https://disease-ontology.org/term/DOID:0080581", "evidence": [ { "id": "0080581", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080581" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": 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pattern formation", "id": "GO:0048190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048190", "evidence": [ { "database": "UniProtKB", "id": "Q9VL02", "url": "https://www.uniprot.org/uniprotkb/Q9VL02" } ], "pmid": "" }, { "name": "extraction of mislocalized protein from mitochondrial outer membrane", "id": "GO:0140570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140570", "evidence": [ { "database": "UniProtKB", "id": "Q9VL02", "url": "https://www.uniprot.org/uniprotkb/Q9VL02" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL02-1" }, { "uniprot_canonical_ac": "Q9VXC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VXC1", "url": "https://www.uniprot.org/uniprotkb/Q9VXC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 179, "chemical_mass": 20120.0, "gene_names": 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[ { "database": "UniProtKB", "id": "Q9VXC1", "url": "https://www.uniprot.org/uniprotkb/Q9VXC1" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "Q9VXC1", "url": "https://www.uniprot.org/uniprotkb/Q9VXC1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VXC1-1" }, { "uniprot_canonical_ac": "Q86B94-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 905, "chemical_mass": 100259.0, "gene_names": "mfas;7;87A7-9/7;BEST:GH06752;CG3359;Dmel\\CG3359;Dmel_CG3359;FBgn0260745;Mfas;anon-87Af;anon-EST:Liang-97;anon-WO0140519.174;clone 97;gh06752;mfas", "protein_name": "", "disease": [ { "disease_id": "DOID:0060444", "name": "granular corneal dystrophy 2", "description": "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.", "url": "https://disease-ontology.org/term/DOID:0060444", "evidence": [ { "id": "0060444", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060444" } ], "weight": 0.0 }, { "disease_id": "DOID:0060447", "name": "epithelial basement membrane dystrophy", "description": "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.", "url": "https://disease-ontology.org/term/DOID:0060447", "evidence": [ { "id": "0060447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060447" } ], "weight": 0.0 }, { "disease_id": "DOID:0060453", "name": "Reis-Bucklers corneal dystrophy", "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.", "url": "https://disease-ontology.org/term/DOID:0060453", "evidence": [ { "id": "0060453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060453" } ], "weight": 0.0 }, { "disease_id": "DOID:0060455", "name": "Thiel-Behnke corneal dystrophy", "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.", "url": "https://disease-ontology.org/term/DOID:0060455", "evidence": [ { "id": "0060455", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060455" } ], "weight": 0.0 }, { "disease_id": "DOID:0080010", "name": "bone structure disease", "description": "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure.", "url": "https://disease-ontology.org/term/DOID:0080010", "evidence": [ { "id": "0080010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080010" } ], "weight": 0.0 }, { "disease_id": "DOID:0080530", "name": "granular corneal dystrophy 1", "description": "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface.", "url": "https://disease-ontology.org/term/DOID:0080530", "evidence": [ { "id": "0080530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080530" } ], "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:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:2566", "name": "corneal dystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:2566", "evidence": [ { "id": "2566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2566" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" }, { "name": "negative regulation of hemocyte proliferation", "id": "GO:0035207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035207", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q86B94", "url": "https://www.uniprot.org/uniprotkb/Q86B94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q86B94-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Thr563", "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": 563, "start_aa": "Thr", "end_pos": 563, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr563", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q86B94-1" }, { "uniprot_canonical_ac": "M9ND65-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9ND65", "url": "https://www.uniprot.org/uniprotkb/M9ND65" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 705, "chemical_mass": 82488.0, "gene_names": "Dmel\\CG16854;CG16854;Dmel\\CG16854;Dmel_CG16854;gi7297815", "protein_name": "DUF229 domain containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9ND65-1" }, { "uniprot_canonical_ac": "Q7KVX1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KVX1", "url": "https://www.uniprot.org/uniprotkb/Q7KVX1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 443, "chemical_mass": 48876.0, "gene_names": "Pdha1;CG 7010;CG7010;Dmel\\CG7010;Dmel_CG7010;E1-PDH;L(1)G0334;L(1)g0334;PDH-E1;PDHA1;PDHE1;PDHalpha;PDH;Pdha[KK101856];Pdha;Pdh;l (1) G0334;l(1)G0334;pdha", "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0070569", "name": "spermatogenic failure 70", "description": "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3.", "url": "https://disease-ontology.org/term/DOID:0070569", "evidence": [ { "id": "0070569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070569" } ], "weight": 0.0 }, { "disease_id": "DOID:3649", "name": "pyruvate decarboxylase deficiency", "description": "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.", "url": "https://disease-ontology.org/term/DOID:3649", "evidence": [ { "id": "3649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3649" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KVX1", "url": "https://www.uniprot.org/uniprotkb/Q7KVX1" } ], "pmid": "" }, { "name": "pyruvate dehydrogenase complex", "id": "GO:0045254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045254", "evidence": [ { "database": "UniProtKB", "id": "Q7KVX1", "url": "https://www.uniprot.org/uniprotkb/Q7KVX1" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyruvate dehydrogenase (acetyl-transferring) activity", "id": "GO:0004739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004739", "evidence": [ { "database": "UniProtKB", "id": "Q7KVX1", "url": "https://www.uniprot.org/uniprotkb/Q7KVX1" } ], "pmid": "" } ], "biological_process": [ { "name": "pyruvate decarboxylation to acetyl-CoA", "id": "GO:0006086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006086", "evidence": [ { "database": "UniProtKB", "id": "Q7KVX1", "url": "https://www.uniprot.org/uniprotkb/Q7KVX1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KVX1-1" }, { "uniprot_canonical_ac": "A1ZAH6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAH6", "url": "https://www.uniprot.org/uniprotkb/A1ZAH6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 577, "chemical_mass": 65074.0, "gene_names": "Dmel\\CG4945;CG4945;CT15864;Dmel\\CG4945;Dmel_CG4945;PKN", "protein_name": "Protein kinase domain-containing protein", "disease": [], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "A1ZAH6", "url": "https://www.uniprot.org/uniprotkb/A1ZAH6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A1ZAH6", "url": "https://www.uniprot.org/uniprotkb/A1ZAH6" } ], "pmid": "" } ], "biological_process": [ { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "A1ZAH6", "url": "https://www.uniprot.org/uniprotkb/A1ZAH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAH6-1" }, { "uniprot_canonical_ac": "A1Z9B0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z9B0", "url": "https://www.uniprot.org/uniprotkb/A1Z9B0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 674, "chemical_mass": 78137.0, "gene_names": "Dmel\\CG4712;CG4712;Dmel\\CG4712;Dmel_CG4712", "protein_name": "CCDC113/CCDC96 coiled-coil domain-containing protein", "disease": [], "cellular_component": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A1Z9B0", "url": "https://www.uniprot.org/uniprotkb/A1Z9B0" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A1Z9B0", "url": "https://www.uniprot.org/uniprotkb/A1Z9B0" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A1Z9B0", "url": "https://www.uniprot.org/uniprotkb/A1Z9B0" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A1Z9B0", "url": "https://www.uniprot.org/uniprotkb/A1Z9B0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z9B0-1" }, { "uniprot_canonical_ac": "A1ZBD9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBD9", "url": "https://www.uniprot.org/uniprotkb/A1ZBD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 497, "chemical_mass": 54827.0, "gene_names": "MFS15;CG15094;Dmel\\CG15094;Dmel_CG15094;MFS15", "protein_name": "Putative inorganic phosphate cotransporter", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1ZBD9", "url": "https://www.uniprot.org/uniprotkb/A1ZBD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "A1ZBD9", "url": "https://www.uniprot.org/uniprotkb/A1ZBD9" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "A1ZBD9", "url": "https://www.uniprot.org/uniprotkb/A1ZBD9" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "A1ZBD9", "url": "https://www.uniprot.org/uniprotkb/A1ZBD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZBD9-1" }, { "uniprot_canonical_ac": "A8DYY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYY0", "url": "https://www.uniprot.org/uniprotkb/A8DYY0" } ], "common_name": 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0KHS0-1" }, { "uniprot_canonical_ac": "R9PY37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "R9PY37", "url": "https://www.uniprot.org/uniprotkb/R9PY37" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 939, "chemical_mass": 101271.0, "gene_names": "smal;CG13986;CG13987;CG13988;CG15813;CG31640;CG34380;Dmel\\CG34380;Dmel_CG34380;anon-WO0073329.6;smal", "protein_name": "", "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": 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"0112196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112196" } ], "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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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": 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"evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5627", "name": "adenosquamous gallbladder carcinoma", "description": "A gallbladder carcinoma that derives_from squamous cells and gland-like cells.", "url": "https://disease-ontology.org/term/DOID:5627", "evidence": [ { "id": "5627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5627" } ], "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: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": 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"PDZ-GEF;CG9491;D-PDZGEF;DGEF;Dmel\\CG9491;Dmel_CG9491;Dzy;EC2-8;GEF;Gef26;PDF-GEF Dizzy;PDZ-GEF;dPDZ-GEF;dizzy;dzy;gef26;l(2)k13720", "protein_name": "", "disease": [ { "disease_id": "DOID:0111694", "name": "familial adult myoclonic epilepsy 7", "description": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.", "url": "https://disease-ontology.org/term/DOID:0111694", "evidence": [ { "id": "0111694", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111694" } ], "weight": 0.0 } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "adherens junction assembly", "id": "GO:0034333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034333", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "R7 cell fate commitment", "id": "GO:0007465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007465", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" }, { "name": "positive regulation of sevenless signaling pathway", "id": "GO:0045874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045874", "evidence": [ { "database": "UniProtKB", "id": "Q9VMF3", "url": "https://www.uniprot.org/uniprotkb/Q9VMF3" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": 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} ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Y0Z0", "url": "https://www.uniprot.org/uniprotkb/Q9Y0Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9Y0Z0-1" }, { "uniprot_canonical_ac": "Q9VWQ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VWQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VWQ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 163, "chemical_mass": 18560.0, "gene_names": "Dmel\\CG6891;CG6891;Cotl1;Dmel\\CG6891;Dmel_CG6891", "protein_name": "Coactosin-like protein", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", 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"https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": 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"https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV3", "url": "https://www.uniprot.org/uniprotkb/Q9VLV3" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV3", "url": "https://www.uniprot.org/uniprotkb/Q9VLV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLV3-1" }, { "uniprot_canonical_ac": "Q9VLW1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLW1", "url": "https://www.uniprot.org/uniprotkb/Q9VLW1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 265, "chemical_mass": 29930.0, "gene_names": "lectin-28C;AC 004723A;AC004723a;CG7106;Dmel\\CG7106;Dmel_CG7106;lectin-28C", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLW1", "url": "https://www.uniprot.org/uniprotkb/Q9VLW1" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 278, "chemical_mass": 30511.0, "gene_names": "Hus1-like;CG2525;DmHus1;Dmel\\CG2525;Hus-1;Hus1-like;Hus1;hus1", "protein_name": "Checkpoint protein Hus1-like", "disease": [], "biological_process": [ { "name": "meiotic recombination checkpoint signaling", "id": "GO:0051598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051598", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "mitotic DNA damage checkpoint signaling", "id": "GO:0044773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044773", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": 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"id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "female pronucleus assembly", "id": "GO:0035038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035038", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033314", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "meiotic DNA integrity checkpoint signaling", "id": "GO:0044778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044778", "evidence": [ { "database": "UniProtKB", "id": "Q9VN60", "url": "https://www.uniprot.org/uniprotkb/Q9VN60" } ], "pmid": "" }, { "name": "synaptonemal complex disassembly", "id": "GO:0070194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070194", "evidence": [ { "database": 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retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.", "url": "https://disease-ontology.org/term/DOID:0110365", "evidence": [ { "id": "0110365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110365" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q9VN94", "url": "https://www.uniprot.org/uniprotkb/Q9VN94" } ], "pmid": "" } ], "cellular_component": [ { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9VN94", "url": "https://www.uniprot.org/uniprotkb/Q9VN94" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q9VN94", "url": 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"url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "pmid": "" }, { "name": "secondary lysosome", "id": "GO:0005767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005767", "evidence": [ { "database": "UniProtKB", "id": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "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": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "Q9VNK6", "url": "https://www.uniprot.org/uniprotkb/Q9VNK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNK6-1" }, { "uniprot_canonical_ac": "Q9VNK8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNK8", "url": "https://www.uniprot.org/uniprotkb/Q9VNK8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 743, "chemical_mass": 86439.0, "gene_names": "Dmel\\CG15580;CG15580;Dmel\\CG15580;Dmel_CG15580", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNK8-1" }, { "uniprot_canonical_ac": "Q9VNN1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNN1", "url": "https://www.uniprot.org/uniprotkb/Q9VNN1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 302, "chemical_mass": 33571.0, "gene_names": "Osi11;CG15596;Dmel\\CG15596;Dmel_CG15596;Osi11;osi11", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VNN1", "url": "https://www.uniprot.org/uniprotkb/Q9VNN1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNN1", "url": "https://www.uniprot.org/uniprotkb/Q9VNN1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNN1-1" }, { "uniprot_canonical_ac": "Q9VNP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNP0", "url": "https://www.uniprot.org/uniprotkb/Q9VNP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 306, "chemical_mass": 34083.0, "gene_names": "Osi18;CG1169;Dmel\\CG1169;Dmel_CG1169;Osi18;osi18", "protein_name": "", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VNP0", "url": "https://www.uniprot.org/uniprotkb/Q9VNP0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VNP0", "url": "https://www.uniprot.org/uniprotkb/Q9VNP0" } ], "pmid": "" } ], "biological_process": [ { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VNP0", "url": "https://www.uniprot.org/uniprotkb/Q9VNP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNP0-1" }, { "uniprot_canonical_ac": "Q9VNQ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VNQ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 355, "chemical_mass": 40265.0, "gene_names": "Dmel\\CG32459;CG32459;CG8220;Dmel\\CG32459;Dmel_CG32459;anon-WO0140519.31", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNQ6-1" }, { "uniprot_canonical_ac": "Q9VNR1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNR1", "url": "https://www.uniprot.org/uniprotkb/Q9VNR1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 205, "chemical_mass": 23582.0, "gene_names": "Dmel\\CG14448;CG14448;Dmel\\CG14448;Dmel_CG14448", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VNR1-1" }, { "uniprot_canonical_ac": "Q9VNR6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNR6", "url": "https://www.uniprot.org/uniprotkb/Q9VNR6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 585, "chemical_mass": 61228.0, "gene_names": "l(3)04053;CG11238;Dmel\\CG11238;Dmel_CG11238;l(3)04053;l(3)j8B2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNR6-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Thr364", "weight": 0.0, "glycosylation": [ { 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"end_pos": 509, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr509", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VNR6-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "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": 66, "start_aa": "Thr", "end_pos": 66, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr66", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VNR6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VNR6" } ] } ] }, { "uniprot_canonical_ac": "Q9VNR6-1", 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], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX7", "url": "https://www.uniprot.org/uniprotkb/Q9VNX7" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX7", "url": "https://www.uniprot.org/uniprotkb/Q9VNX7" } ], "pmid": "" } ], "biological_process": [ { "name": "entrainment of circadian clock by photoperiod", "id": "GO:0043153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043153", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX7", "url": "https://www.uniprot.org/uniprotkb/Q9VNX7" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9VNX7", "url": 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"https://www.uniprot.org/uniprotkb/Q9VSC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSC6-1" }, { "uniprot_canonical_ac": "Q9VSE8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSE8", "url": "https://www.uniprot.org/uniprotkb/Q9VSE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 441, "chemical_mass": 50241.0, "gene_names": "Uxs;CG7979;Dmel\\CG7979;Dmel_CG7979;Uxs", "protein_name": "UDP-glucuronic acid decarboxylase 1", "disease": [], "biological_process": [ { "name": "D-xylose metabolic process", "id": "GO:0042732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042732", "evidence": [ { "database": "UniProtKB", "id": "Q9VSE8", "url": "https://www.uniprot.org/uniprotkb/Q9VSE8" } ], "pmid": "" }, { "name": "UDP-D-xylose biosynthetic process", "id": "GO:0033320", "url": 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[], "biomarkers": [], "sites": [], "record_id": "Q9VSG7-1" }, { "uniprot_canonical_ac": "Q9VSG8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSG8", "url": "https://www.uniprot.org/uniprotkb/Q9VSG8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 179, "chemical_mass": 20626.0, "gene_names": "Arl5;Arl5;CG7197;Dmel\\CG7197;Dmel_CG7197;Q9VSG8", "protein_name": "", "disease": [], "biological_process": [ { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG8", "url": "https://www.uniprot.org/uniprotkb/Q9VSG8" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG8", "url": 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}, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG8", "url": "https://www.uniprot.org/uniprotkb/Q9VSG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSG8-1" }, { "uniprot_canonical_ac": "Q9VSH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSH8", "url": "https://www.uniprot.org/uniprotkb/Q9VSH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 281, "chemical_mass": 32370.0, "gene_names": "Pex2;CG7081;DmelPex2;Dmel\\CG7081;Dmel_CG7081;PEX2;Pex2;pex2", "protein_name": "Peroxisome biogenesis factor 2", "disease": [ { "disease_id": "DOID:0080480", "name": "peroxisome biogenesis disorder 5A", "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.", "url": "https://disease-ontology.org/term/DOID:0080480", "evidence": [ { "id": "0080480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080480" } ], "weight": 0.0 }, { "disease_id": "DOID:0081434", "name": "Peroxisome biogenesis disorder 5B", "description": "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.", "url": "https://disease-ontology.org/term/DOID:0081434", "evidence": [ { "id": "0081434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081434" } ], "weight": 0.0 }, { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and 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"uniprot_canonical_ac": "Q9VSQ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VSQ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 229, "chemical_mass": 23974.0, "gene_names": "Dmel\\CG13309;CG13309;CT32604;Dmel\\CG13309;Dmel_CG13309", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VSQ7", "url": "https://www.uniprot.org/uniprotkb/Q9VSQ7" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VSQ7", "url": 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"Q9VSV3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 435, "chemical_mass": 50457.0, "gene_names": "Dmel\\CG4483;CG4483;Dmel\\CG4483;Dmel_CG4483", "protein_name": "Palmitoyltransferase", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-cysteine S-palmitoyltransferase activity", "id": "GO:0019706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019706", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV3", "url": "https://www.uniprot.org/uniprotkb/Q9VSV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSV3-1" }, { "uniprot_canonical_ac": "Q9VT84-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT84", "url": "https://www.uniprot.org/uniprotkb/Q9VT84" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 277, "chemical_mass": 30558.0, "gene_names": "Dmel\\CG6628;CG6628;Dmel\\CG6628;Dmel_CG6628", "protein_name": "Venom allergen-1", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VT84", "url": "https://www.uniprot.org/uniprotkb/Q9VT84" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VT84", "url": "https://www.uniprot.org/uniprotkb/Q9VT84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VT84-1" }, { "uniprot_canonical_ac": "Q9VTC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTC1", "url": "https://www.uniprot.org/uniprotkb/Q9VTC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 791, "chemical_mass": 87253.0, "gene_names": "DmRH27;CG6418;DmRH27;Dmel\\CG6418;Dmel_CG6418;cg6418", "protein_name": "ATP-dependent RNA helicase DDX42", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VTC1", "url": 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}, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VUH6", "url": "https://www.uniprot.org/uniprotkb/Q9VUH6" } ], "pmid": "" }, { "name": "spindle assembly", "id": "GO:0051225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051225", "evidence": [ { "database": "UniProtKB", "id": "Q9VUH6", "url": "https://www.uniprot.org/uniprotkb/Q9VUH6" } ], "pmid": "" }, { "name": "positive regulation of Wnt protein secretion", "id": "GO:0061357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061357", "evidence": [ { "database": "UniProtKB", "id": "Q9VUH6", "url": "https://www.uniprot.org/uniprotkb/Q9VUH6" } ], "pmid": "" }, { "name": "regulation of presynaptic dense core granule exocytosis", "id": "GO:0099161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099161", "evidence": [ { "database": "UniProtKB", "id": "Q9VUH6", "url": "https://www.uniprot.org/uniprotkb/Q9VUH6" } ], "pmid": "" }, 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"GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VUU8", "url": "https://www.uniprot.org/uniprotkb/Q9VUU8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VUU8-1" }, { "uniprot_canonical_ac": "Q9VV29-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VV29", "url": "https://www.uniprot.org/uniprotkb/Q9VV29" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 124, "chemical_mass": 12815.0, "gene_names": "BcDNA:RE63063;BcDNA:RE63063;CG13041;Dmel\\CG13041;Dmel_CG13041", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VV29-1" }, { "uniprot_canonical_ac": "Q9VV35-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/Q9VV76" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q9VV76", "url": "https://www.uniprot.org/uniprotkb/Q9VV76" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9VV76", "url": "https://www.uniprot.org/uniprotkb/Q9VV76" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q9VV76", "url": "https://www.uniprot.org/uniprotkb/Q9VV76" } ], "pmid": "" }, { "name": "synaptic vesicle docking", "id": "GO:0016081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016081", "evidence": [ { "database": "UniProtKB", "id": "Q9VV76", "url": 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"" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG1", "url": "https://www.uniprot.org/uniprotkb/Q9VVG1" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG1", "url": "https://www.uniprot.org/uniprotkb/Q9VVG1" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG1", "url": "https://www.uniprot.org/uniprotkb/Q9VVG1" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "Q9VVG1", "url": "https://www.uniprot.org/uniprotkb/Q9VVG1" } ], "pmid": "" }, { "name": 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], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "wing disc development", "id": "GO:0035220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035220", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VVJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VVJ5" } ], "pmid": "" }, { "name": "late 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"pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VZD9", "url": "https://www.uniprot.org/uniprotkb/Q9VZD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VZD9-1" }, { "uniprot_canonical_ac": "Q9VZF5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 887, "chemical_mass": 100667.0, "gene_names": "pav;08;0934/13;0973/08;13;2A12MEL;2A12;CG1258;DmKLP1/pav;DmMKLP1;DmPAV;DmPav;Dmel\\CG1258;Dmel_CG1258;KIF 23;KIF23;KLP;MKLP1;Mklp1;PAV-KLP;PAV-MKLP;PAV/KLP;PAV;Pav KLP;Pav-KLP;Pav-Klp;Pav-klp;PavKLP;Pav;anon-EST:fe2A12;anon2A12;group 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], "pmid": "" } ], "biological_process": [ { "name": "maintenance of protein location in cell", "id": "GO:0032507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032507", "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "pmid": "" }, { "name": "somatic muscle development", "id": "GO:0007525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007525", "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "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": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": 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"Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "Q9VZF5", "url": "https://www.uniprot.org/uniprotkb/Q9VZF5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VZF5-1" }, { "uniprot_canonical_ac": "Q9VZK7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VZK7", "url": "https://www.uniprot.org/uniprotkb/Q9VZK7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 773, 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"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": 519, "start_aa": "Thr", "end_pos": 519, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr519", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VZK7-1" }, { "uniprot_canonical_ac": "Q9VZK8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VZK8", "url": "https://www.uniprot.org/uniprotkb/Q9VZK8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 320, "chemical_mass": 36458.0, "gene_names": 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"" } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9W0E9", "url": "https://www.uniprot.org/uniprotkb/Q9W0E9" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9W0E9", "url": "https://www.uniprot.org/uniprotkb/Q9W0E9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9W0E9", "url": "https://www.uniprot.org/uniprotkb/Q9W0E9" } ], "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": "Q9W0E9", "url": 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"https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W149-1" }, { "uniprot_canonical_ac": "Q9W164-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W164", "url": "https://www.uniprot.org/uniprotkb/Q9W164" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 745, "chemical_mass": 86141.0, "gene_names": "Crtp;CG13580;Crtp;Dmel\\CG13580;Dmel_CG13580", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W164-1" }, { "uniprot_canonical_ac": "Q9W175-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W175", "url": "https://www.uniprot.org/uniprotkb/Q9W175" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 353, "chemical_mass": 39608.0, 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"Q9W1K3-1" }, { "uniprot_canonical_ac": "Q9W1M9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1M9", "url": "https://www.uniprot.org/uniprotkb/Q9W1M9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 298, "chemical_mass": 33624.0, "gene_names": "Rrp4;CG3931;Dmel\\CG3931;Dmel_CG3931;RRP4;Rrp4;dRrp4;rrp4", "protein_name": "Exosome complex component RRP4", "disease": [ { "disease_id": "DOID:0081175", "name": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies", "description": "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0081175", "evidence": [ { "id": "0081175", 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} ], "pmid": "" }, { "name": "CUT catabolic process", "id": "GO:0071034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071034", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M9", "url": "https://www.uniprot.org/uniprotkb/Q9W1M9" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent rRNA catabolic process", "id": "GO:0071035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071035", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M9", "url": "https://www.uniprot.org/uniprotkb/Q9W1M9" } ], "pmid": "" }, { "name": "TRAMP-dependent tRNA surveillance pathway", "id": "GO:0071038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071038", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M9", "url": "https://www.uniprot.org/uniprotkb/Q9W1M9" } ], "pmid": "" }, { "name": "poly(A)-dependent snoRNA 3'-end processing", "id": "GO:0071051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071051", "evidence": [ { "database": "UniProtKB", "id": "Q9W1M9", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9W1P0", "url": "https://www.uniprot.org/uniprotkb/Q9W1P0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1P0-1" }, { "uniprot_canonical_ac": "Q9W1P5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1P5", "url": "https://www.uniprot.org/uniprotkb/Q9W1P5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 103, "chemical_mass": 12112.0, "gene_names": "Dmel\\CG13557;CG13557;Dmel\\CG13557;Dmel_CG13557", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1P5-1" }, { "uniprot_canonical_ac": "Q9W1R1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1R1", "url": "https://www.uniprot.org/uniprotkb/Q9W1R1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 432, "chemical_mass": 48719.0, "gene_names": "yellow-d;BcDNA:GH20107;CG9889;Dmel\\CG9889;Dmel_CG9889;yell-d;yellow-d", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W1R1", "url": "https://www.uniprot.org/uniprotkb/Q9W1R1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1R1-1" }, { "uniprot_canonical_ac": "Q9W1S5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1S5", "url": "https://www.uniprot.org/uniprotkb/Q9W1S5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 315, "chemical_mass": 35122.0, "gene_names": 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Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0050553", "evidence": [ { "id": "0050553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050553" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "proteasome core complex, beta-subunit complex", "id": "GO:0019774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019774", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S5", "url": "https://www.uniprot.org/uniprotkb/Q9W1S5" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S5", "url": "https://www.uniprot.org/uniprotkb/Q9W1S5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": 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"https://www.uniprot.org/uniprotkb/Q9W1T0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 336, "chemical_mass": 37729.0, "gene_names": "Dmel\\CG12782;CG12782;Dmel\\CG12782;Dmel_CG12782", "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": "Q9W1T0", "url": "https://www.uniprot.org/uniprotkb/Q9W1T0" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T0", "url": "https://www.uniprot.org/uniprotkb/Q9W1T0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T0", "url": 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 358, "chemical_mass": 40084.0, "gene_names": "Gpdh2;CG3215;Dmel\\CG3215;Dmel_CG3215;GPDH-2;Gpdh2;gpdh-2", "protein_name": "Glycerol-3-phosphate dehydrogenase [NAD(+)]", "disease": [ { "disease_id": "DOID:0110219", "name": "Brugada syndrome 2", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0110219", "evidence": [ { "id": "0110219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110219" } ], "weight": 0.0 } ], "biological_process": [ { "name": "glycerophospholipid metabolic process", "id": "GO:0006650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006650", "evidence": [ { "database": "UniProtKB", "id": "Q9W1U3", "url": "https://www.uniprot.org/uniprotkb/Q9W1U3" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2R3", "url": "https://www.uniprot.org/uniprotkb/Q9W2R3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 792, "chemical_mass": 87758.0, "gene_names": "sktl;25/17;CG9985;Dmel\\CG9985;PIP5-kinase;PIP5K 57B6;PIP5K;SKTL;Sktl;fam;l(2)05475;l(2)k12405;ski;sktl", "protein_name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 sktl", "disease": [ { "disease_id": "DOID:0060653", "name": "lethal congenital contracture syndrome 3", "description": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0060653", "evidence": [ { "id": "0060653", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060653" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": 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"id": "GO:0016593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016593", "evidence": [ { "database": "UniProtKB", "id": "Q9XZ19", "url": "https://www.uniprot.org/uniprotkb/Q9XZ19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9XZ19-1" }, { "uniprot_canonical_ac": "Q9Y1T2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1067, "chemical_mass": 116704.0, "gene_names": "Apc2;APC2;APC;Apc2;CG6193;D-APC2;Dm APC2;Dmel\\CG6193;Dmel_CG6193;E-APC dAPC2;E-APC;apc2;d-APC2;dAPC2/E-APC;dAPC2;dApc2;dapc2;e-apc", "protein_name": "", "disease": [ { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon 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Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.", "url": "https://disease-ontology.org/term/DOID:0080409", "evidence": [ { "id": "0080409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080409" } ], "weight": 0.0 }, { "disease_id": "DOID:0081218", "name": "autosomal recessive intellectual developmental disorder 74", "description": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.", "url": "https://disease-ontology.org/term/DOID:0081218", "evidence": [ { "id": "0081218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081218" } ], "weight": 0.0 }, { "disease_id": "DOID:0111349", "name": "hereditary desmoid disease", "description": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.", "url": "https://disease-ontology.org/term/DOID:0111349", "evidence": [ { "id": "0111349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111349" } ], "weight": 0.0 }, { "disease_id": "DOID:0112104", "name": "Sotos syndrome 3", "description": "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112104", "evidence": [ { "id": "0112104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112104" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3025", "name": "acinar cell carcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells.", "url": "https://disease-ontology.org/term/DOID:3025", "evidence": [ { "id": "3025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3025" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:657", "name": "adenoma", "description": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:657", "evidence": [ { "id": "657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:657" } ], "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 } ], "cellular_component": [ { "name": "basal cortex", "id": "GO:0045180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045180", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016342", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "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": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "segment polarity determination", "id": "GO:0007367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007367", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "chitin-based embryonic cuticle biosynthetic process", "id": "GO:0008362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008362", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "pseudocleavage involved in syncytial blastoderm formation", "id": "GO:0030589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030589", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "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": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "oocyte localization involved in germarium-derived egg chamber formation", "id": "GO:0030720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030720", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "chitin-based larval cuticle pattern formation", "id": "GO:0035293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035293", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "imaginal disc pattern formation", "id": "GO:0007447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007447", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "syncytial nuclear migration", "id": "GO:0035190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035190", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "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": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9Y1T2", "url": "https://www.uniprot.org/uniprotkb/Q9Y1T2" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": 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"" }, { "name": "protein localization to rhabdomere", "id": "GO:1990146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990146", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH28", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH28" } ], "pmid": "" }, { "name": "rhabdomere development", "id": "GO:0042052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042052", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KH28", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KH28" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4KH28-1" }, { "uniprot_canonical_ac": "A0A0B4KHK8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KHK8", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KHK8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 507, "chemical_mass": 55594.0, "gene_names": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LF48", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LF48" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 21, "chemical_mass": 2298.0, "gene_names": "Dmel\\CG43178;CG43178;Dmel\\CG43178;Dmel_CG43178;MIP03715_ORF_2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4LF48-1" }, { "uniprot_canonical_ac": "A0A0B4LGE9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4LGE9", "url": "https://www.uniprot.org/uniprotkb/A0A0B4LGE9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 273, "chemical_mass": 31118.0, "gene_names": "CG13569;CG13569-3;CG13569;CG43777;Dmel\\CG43777;Dmel_CG43777", "protein_name": "SCP 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"" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "A1Z8H4", "url": "https://www.uniprot.org/uniprotkb/A1Z8H4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z8H4-1" }, { "uniprot_canonical_ac": "A1Z8I5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8I5", "url": "https://www.uniprot.org/uniprotkb/A1Z8I5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 94, "chemical_mass": 10654.0, "gene_names": "CG13212;CG13212;CG18336;Dmel\\CG18336;Dmel_CG18336", "protein_name": "Ciliary microtubule inner protein 2A-C-like domain-containing protein", "disease": [], "cellular_component": [ { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": 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"https://www.uniprot.org/uniprotkb/A1ZAC0" } ], "pmid": "" } ], "biological_process": [ { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "A1ZAC0", "url": "https://www.uniprot.org/uniprotkb/A1ZAC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAC0-1" }, { "uniprot_canonical_ac": "A1ZAJ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAJ6", "url": "https://www.uniprot.org/uniprotkb/A1ZAJ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 110, "chemical_mass": 12994.0, "gene_names": "Dmel\\CG15919;CG15919;Dmel\\CG15919;Dmel_CG15919", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAJ6-1" }, { "uniprot_canonical_ac": "A1ZAQ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 118, "chemical_mass": 13203.0, "gene_names": "Gbp1;CG15917;Dmel\\CG15917;Dmel_CG15917;GBP1;GBP;Gbp1;Gbp;gbp1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" }, { "name": "positive regulation of homotypic cell-cell adhesion", "id": "GO:0034112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034112", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": 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"database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" }, { "name": "positive regulation of antimicrobial peptide production", "id": "GO:0002225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002225", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "A1ZAQ9", "url": "https://www.uniprot.org/uniprotkb/A1ZAQ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAQ9-1" }, { "uniprot_canonical_ac": "A1ZB23-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZB23", "url": "https://www.uniprot.org/uniprotkb/A1ZB23" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", 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"A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "A1ZBQ4", "url": "https://www.uniprot.org/uniprotkb/A1ZBQ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZBQ4-1" }, { "uniprot_canonical_ac": "A1ZBY3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZBY3", "url": "https://www.uniprot.org/uniprotkb/A1ZBY3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 367, "chemical_mass": 39869.0, "gene_names": "dpr1;CG13439;DPR1;Dmel\\CG13439;Dmel_CG13439;Dpr-1;Dpr1;dpr1;dpr", "protein_name": "", "disease": [], "cellular_component": [ { "name": "neuron projection membrane", "id": "GO:0032589", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A1ZBY3", "url": "https://www.uniprot.org/uniprotkb/A1ZBY3" } ], "pmid": "" }, { "name": "sensory perception of salty taste", "id": "GO:0050914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050914", "evidence": [ { "database": "UniProtKB", "id": "A1ZBY3", "url": "https://www.uniprot.org/uniprotkb/A1ZBY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZBY3-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Thr37", "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": 37, "start_aa": "Thr", "end_pos": 37, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr37", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1ZBY3-1" }, { "uniprot_canonical_ac": "A8DY49-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DY49", "url": "https://www.uniprot.org/uniprotkb/A8DY49" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 104, "chemical_mass": 11193.0, "gene_names": "Dmel\\CG34215;CG34215;Dmel\\CG34215;Dmel_CG34215", "protein_name": "Single domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A8DY49", "url": "https://www.uniprot.org/uniprotkb/A8DY49" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8DY49-1" }, { "uniprot_canonical_ac": "A8DYD7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYD7", "url": "https://www.uniprot.org/uniprotkb/A8DYD7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 295, "chemical_mass": 34038.0, "gene_names": "Dmel\\CG34444;CG30070;CG34444;Dmel\\CG34444;Dmel_CG34444", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8DYD7-1" }, { "uniprot_canonical_ac": "A8DYF7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYF7", "url": "https://www.uniprot.org/uniprotkb/A8DYF7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 346, "chemical_mass": 38737.0, "gene_names": "mrj;CG8448;Dmel\\CG8448;Dmel_CG8448;MRJ;dMRJ;dmrj;mrjA;mrj", "protein_name": 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[ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": 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"chemical_mass": 12916.0, "gene_names": "Dmel\\CG34178;CG34178;Dmel\\CG34178;Dmel_CG34178", "protein_name": "Single domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A8DYV1", "url": "https://www.uniprot.org/uniprotkb/A8DYV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8DYV1-1" }, { "uniprot_canonical_ac": "A8DYV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYV9", "url": "https://www.uniprot.org/uniprotkb/A8DYV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 76, "chemical_mass": 8391.0, "gene_names": "Dmel\\CG34180;CG34180;Dmel\\CG34180;Dmel_CG34180", "protein_name": "Secreted protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8DYV9-1" }, { "uniprot_canonical_ac": "A8JTM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8JTM7", "url": "https://www.uniprot.org/uniprotkb/A8JTM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 4769, "chemical_mass": 530166.0, "gene_names": "mgl;CG12139;CG12654;CG15316;CG34339;CG34352;CG42611;CT7830;Dm CG34352;Dmel\\CG42611;Dmel_CG42611;LDLR;LRP-2;Megalin;Mgl;SOSIE;anon-WO0140519.108;lrp2;megalin;mgl", "protein_name": "", "disease": [ { "disease_id": "DOID:0090144", "name": "Donnai-Barrow syndrome", "description": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation 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"weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11829", "name": "degenerative myopia", "description": "", "url": "https://disease-ontology.org/term/DOID:11829", "evidence": [ { "id": "11829", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11829" } ], "weight": 0.0 }, { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A8JTM7", "url": "https://www.uniprot.org/uniprotkb/A8JTM7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A8JTM7", "url": "https://www.uniprot.org/uniprotkb/A8JTM7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8JTM7", "url": "https://www.uniprot.org/uniprotkb/A8JTM7" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "A8JTM7", "url": "https://www.uniprot.org/uniprotkb/A8JTM7" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": 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"record_id": "A8JTM7-1" }, { "uniprot_canonical_ac": "A8JUP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8JUP9", "url": "https://www.uniprot.org/uniprotkb/A8JUP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 121, "chemical_mass": 13752.0, "gene_names": "CG6857;CG42302;CG6857;Dmel\\CG42302;Dmel_CG42302", "protein_name": "Mitochondrial import inner membrane translocase subunit", "disease": [ { "disease_id": "DOID:0050757", "name": "deafness-dystonia-optic neuronopathy syndrome", "description": "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.", "url": "https://disease-ontology.org/term/DOID:0050757", "evidence": [ { "id": "0050757", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050757" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial intermembrane space chaperone complex", "id": "GO:0042719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042719", "evidence": [ { "database": "UniProtKB", "id": "A8JUP9", "url": "https://www.uniprot.org/uniprotkb/A8JUP9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A8JUP9", "url": "https://www.uniprot.org/uniprotkb/A8JUP9" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "A8JUP9", "url": "https://www.uniprot.org/uniprotkb/A8JUP9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", 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"gene_names": "Dpm2;CG42456;DPM2;Dmel\\CG42456;Dmel_CG42456;Dpm2;Dromel_CG12016_FBtr0073063_uORF;FBgn0259933", "protein_name": "Dolichol phosphate-mannose biosynthesis regulatory protein", "disease": [ { "disease_id": "DOID:0080571", "name": "congenital disorder of glycosylation Iu", "description": "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0080571", 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[], "record_id": "E1JIA5-1" }, { "uniprot_canonical_ac": "E1JIJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JIJ2", "url": "https://www.uniprot.org/uniprotkb/E1JIJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 220, "chemical_mass": 24906.0, "gene_names": "Dmel\\CG42504;CG42504;Dmel\\CG42504;Dmel_CG42504", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JIJ2-1" }, { "uniprot_canonical_ac": "E1JIY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "E1JIY8", "url": "https://www.uniprot.org/uniprotkb/E1JIY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 111, "chemical_mass": 12507.0, "gene_names": "Tcs6;CG42498;Dm 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E1JIY8-1" }, { "uniprot_canonical_ac": "Q6IKI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IKI1", "url": "https://www.uniprot.org/uniprotkb/Q6IKI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 95, "chemical_mass": 11168.0, "gene_names": "Kmn2;CG42550;Dmel\\CG42550;Dmel_CG42550;HDC12388;Kmn2", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Ndc80 complex", "id": "GO:0031262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031262", "evidence": [ { "database": "UniProtKB", "id": "Q6IKI1", "url": "https://www.uniprot.org/uniprotkb/Q6IKI1" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q6IKI1", "url": 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"uniprot_canonical_ac": "O18645-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Thr410", "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": 410, "start_aa": "Thr", "end_pos": 410, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr410", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "O18645-1" }, { "uniprot_canonical_ac": "O18680-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 539, "chemical_mass": 58752.0, "gene_names": "Alas;ALAS;Alas;CG3017;Dmel\\CG3017;Dmel_CG3017;alas;dALAS", "protein_name": "5-aminolevulinate synthase", "disease": [ { "disease_id": "DOID:0060063", "name": "sideroblastic anemia 1", "description": "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.", "url": "https://disease-ontology.org/term/DOID:0060063", "evidence": [ { "id": "0060063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060063" } ], "weight": 0.0 }, { "disease_id": "DOID:13268", "name": "porphyria", "description": "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.", "url": "https://disease-ontology.org/term/DOID:13268", "evidence": [ { "id": "13268", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13268" } ], "weight": 0.0 }, { "disease_id": "DOID:13270", "name": "erythropoietic protoporphyria", "description": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.", "url": "https://disease-ontology.org/term/DOID:13270", "evidence": [ { "id": "13270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13270" } ], "weight": 0.0 }, { "disease_id": "DOID:13271", "name": "cutaneous porphyria", "description": "", "url": "https://disease-ontology.org/term/DOID:13271", "evidence": [ { "id": "13271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13271" } ], "weight": 0.0 }, { "disease_id": "DOID:2352", "name": "hemochromatosis", "description": "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.", "url": "https://disease-ontology.org/term/DOID:2352", "evidence": [ { "id": "2352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2352" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "weight": 0.0 }, { "disease_id": "DOID:3890", "name": "acute intermittent porphyria", "description": "", "url": "https://disease-ontology.org/term/DOID:3890", "evidence": [ { "id": "3890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3890" } ], "weight": 0.0 }, { "disease_id": "DOID:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8955", "name": "sideroblastic anemia", "description": "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).", "url": "https://disease-ontology.org/term/DOID:8955", "evidence": [ { "id": "8955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8955" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" }, { "name": "5-aminolevulinate synthase activity", "id": "GO:0003870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003870", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" } ], "biological_process": [ { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" }, { "name": "protoporphyrinogen IX biosynthetic process", "id": "GO:0006782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006782", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" }, { "name": "hemoglobin biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "O18680", "url": "https://www.uniprot.org/uniprotkb/O18680" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O18680-1" }, { "uniprot_canonical_ac": "O62609-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 771, "chemical_mass": 81638.0, "gene_names": "Med;3R16;CG1775;DMT;Dmel\\CG1775;E(zen)3;MED;Med;SMAD4;Smad4;anon-EST:Posey121;dSmad4;demented;l(3)11m-254;l(3)12m-137;l(3)SG36;l(3)SG70;l(3)XIIm137;medea;med;smad4", "protein_name": "SMAD family member 4", "disease": [ { "disease_id": "DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.", "url": "https://disease-ontology.org/term/DOID:0050787", "evidence": [ { "id": "0050787", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0111543", "name": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", "description": "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2.", "url": "https://disease-ontology.org/term/DOID:0111543", "evidence": [ { "id": "0111543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111543" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "weight": 0.0 }, { "disease_id": "DOID:1270", "name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.", "url": "https://disease-ontology.org/term/DOID:1270", "evidence": [ { "id": "1270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:520", "name": "aortic disease", "description": "An artery disease that is characterized by degeneration of the cells composing the aortic wall.", "url": "https://disease-ontology.org/term/DOID:520", "evidence": [ { "id": "520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "heteromeric SMAD protein complex", "id": "GO:0071144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071144", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "RNA polymerase II transcription repressor complex", "id": "GO:0090571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090571", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" } ], "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": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O62609", "url": "https://www.uniprot.org/uniprotkb/O62609" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O62609", 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"Q0KI07-1" }, { "uniprot_canonical_ac": "Q0KI22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KI22", "url": "https://www.uniprot.org/uniprotkb/Q0KI22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 166, "chemical_mass": 18699.0, "gene_names": "BcDNA:AT03227;BcDNA:AT03227;CG13602;CG43999;CR43999;Dmel\\CG43999;Dmel_CG43999", "protein_name": "OPA3-like protein CG13603", "disease": [ { "disease_id": "DOID:0110004", "name": "3-methylglutaconic aciduria type 3", "description": "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene.", "url": "https://disease-ontology.org/term/DOID:0110004", "evidence": [ { "id": "0110004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110004" } ], "weight": 0.0 }, { "disease_id": "DOID:0111433", "name": "optic atrophy 3", "description": "An optic 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KI97", "url": "https://www.uniprot.org/uniprotkb/Q0KI97" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 101, "chemical_mass": 11593.0, "gene_names": "Dmel\\CG34117;CG34117;Dmel\\CG34117;Dmel_CG34117", "protein_name": "Protein FMC1 homolog", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q0KI97", "url": "https://www.uniprot.org/uniprotkb/Q0KI97" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q0KI97", "url": "https://www.uniprot.org/uniprotkb/Q0KI97" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial 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"database": "UniProtKB", "id": "Q107I8", "url": "https://www.uniprot.org/uniprotkb/Q107I8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q107I8-1" }, { "uniprot_canonical_ac": "Q27411-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27411", "url": "https://www.uniprot.org/uniprotkb/Q27411" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 463, "chemical_mass": 53135.0, "gene_names": "Rlb1;CG8161;Dmel\\CG8161;Dmel_CG8161;Ov30;Rlb1;Rlb", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q27411", "url": "https://www.uniprot.org/uniprotkb/Q27411" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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melanogaster [7227]" } ], "length": 159, "chemical_mass": 17742.0, "gene_names": "Sfp53D;CG42477;Dmel\\CG42477;Dmel_CG42477;HDC06796;Sfp53D", "protein_name": "", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q6IGA5", "url": "https://www.uniprot.org/uniprotkb/Q6IGA5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6IGA5", "url": "https://www.uniprot.org/uniprotkb/Q6IGA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGA5-1" }, { "uniprot_canonical_ac": "Q6IGE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGE2", "url": "https://www.uniprot.org/uniprotkb/Q6IGE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 208, "chemical_mass": 23760.0, "gene_names": "Dmel\\CG43068;CG43068;Dmel\\CG43068;Dmel_CG43068", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGE2-1" }, { "uniprot_canonical_ac": "Q6IGL6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGL6", "url": "https://www.uniprot.org/uniprotkb/Q6IGL6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 107, "chemical_mass": 11950.0, "gene_names": "Dmel\\CG43244;CG43244;Dmel\\CG43244;Dmel_CG43244", "protein_name": "Seminal fluid protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGL6-1" }, { "uniprot_canonical_ac": "Q6IGP5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGP5", "url": "https://www.uniprot.org/uniprotkb/Q6IGP5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 104, "chemical_mass": 11430.0, "gene_names": "Dmel\\CG34225;CG34225;Dmel\\CG34225;Dmel_CG34225;FBgn0085254", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGP5-1" }, { "uniprot_canonical_ac": "Q6IGS3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGS3", "url": "https://www.uniprot.org/uniprotkb/Q6IGS3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 168, "chemical_mass": 19542.0, "gene_names": "Dmel\\CG34033;BP1078;CG34033;Dmel\\CG34033;Dmel_CG34033;HDC05479", "protein_name": "C-type lectin domain-containing protein", "disease": 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"Dmel\\CG34214;CG34214;Dm_2R:92173;Dmel\\CG34214;Dmel_CG34214", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGX8-1" }, { "uniprot_canonical_ac": "Q6IGY0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IGY0", "url": "https://www.uniprot.org/uniprotkb/Q6IGY0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 94, "chemical_mass": 10628.0, "gene_names": "Dmel\\CG34210;CG34210;Dmel\\CG34210;Dmel_CG34210", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IGY0-1" }, { "uniprot_canonical_ac": "Q6IHC3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IHC3", "url": "https://www.uniprot.org/uniprotkb/Q6IHC3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 127, "chemical_mass": 12291.0, "gene_names": "Dmel\\CG34167;CG34167;Dmel\\CG34167;Dmel_CG34167", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IHC3-1" }, { "uniprot_canonical_ac": "Q6IHC8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IHC8", "url": "https://www.uniprot.org/uniprotkb/Q6IHC8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 81, "chemical_mass": 8627.0, "gene_names": "Dmel\\CG44475;CG44475;Dmel\\CG44475;Dmel_CG44475", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IHC8-1" }, { "uniprot_canonical_ac": "Q6IHH7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IHH7", "url": "https://www.uniprot.org/uniprotkb/Q6IHH7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 99, "chemical_mass": 11020.0, "gene_names": "Dmel\\CG34165;CG34165;Dmel\\CG34165;Dmel_CG34165;FBgn0085194", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IHH7-1" }, { "uniprot_canonical_ac": "Q6III4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6III4", "url": "https://www.uniprot.org/uniprotkb/Q6III4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 21631.0, "gene_names": "Dmel\\CG34028;BP1074;CG34028;Dmel\\CG34028;Dmel_CG34028", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6III4-1" }, { "uniprot_canonical_ac": "Q6IJ01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IJ01", "url": "https://www.uniprot.org/uniprotkb/Q6IJ01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 91, "chemical_mass": 9853.0, "gene_names": "Dmel\\CG34296;CG34296;Dmel\\CG34296;Dmel_CG34296", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IJ01-1" }, { "uniprot_canonical_ac": "Q6IJ72-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IJ72", "url": "https://www.uniprot.org/uniprotkb/Q6IJ72" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 75, "chemical_mass": 8313.0, "gene_names": "Dmel\\CG43117;CG43117;Dmel\\CG43117;Dmel_CG43117", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IJ72-1" }, { "uniprot_canonical_ac": "Q6IJR5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IJR5", "url": "https://www.uniprot.org/uniprotkb/Q6IJR5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 124, "chemical_mass": 13298.0, "gene_names": "Dmel\\CG34284;CG34284;Dmel\\CG34284;Dmel_CG34284", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IJR5-1" }, { "uniprot_canonical_ac": "Q6IM52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6IM52", "url": "https://www.uniprot.org/uniprotkb/Q6IM52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 192, "chemical_mass": 21785.0, "gene_names": "Dmel\\CG34199;CG34199;Dmel\\CG34199;Dmel_CG34199", "protein_name": "DUF4794 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6IM52-1" }, { "uniprot_canonical_ac": "Q76NQ0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": "https://www.uniprot.org/uniprotkb/Q76NQ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 458, "chemical_mass": 51710.0, "gene_names": "Ost1;CG33303;CG5364;Dmel\\CG33303;Dmel_CG33303;OST", "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": "https://www.uniprot.org/uniprotkb/Q76NQ0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": "https://www.uniprot.org/uniprotkb/Q76NQ0" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": "https://www.uniprot.org/uniprotkb/Q76NQ0" } ], "pmid": "" }, { "name": "oligosaccharyltransferase complex", "id": "GO:0008250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008250", "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": "https://www.uniprot.org/uniprotkb/Q76NQ0" } ], "pmid": "" }, { "name": "oligosaccharyltransferase complex A", "id": "GO:0160226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160226", "evidence": [ { "database": "UniProtKB", "id": "Q76NQ0", "url": 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"" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7KSM4", "url": "https://www.uniprot.org/uniprotkb/Q7KSM4" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "Q7KSM4", "url": "https://www.uniprot.org/uniprotkb/Q7KSM4" } ], "pmid": "" } ], "biological_process": [ { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q7KSM4", "url": "https://www.uniprot.org/uniprotkb/Q7KSM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KSM4-1" }, { "uniprot_canonical_ac": "Q7KT68-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KT68", "url": "https://www.uniprot.org/uniprotkb/Q7KT68" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 36648.0, "gene_names": "Dmel\\CG18518;BG:DS02252.4;CG18518;DS02252.4;Dmel\\CG18518;Dmel_CG18518", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KT68-1" }, { "uniprot_canonical_ac": "Q7KTS2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1357, "chemical_mass": 152282.0, "gene_names": "Atg17;ATG17;Atg17/Fip200;Atg17;CG1347;Dmel\\CG1347;Dmel_CG1347;FIP200;Fip200;RB1CC1;atg17;dAtg17;fip200", "protein_name": "RB1-inducible coiled-coil protein 1", "disease": [ { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "protein kinase regulator activity", "id": "GO:0019887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019887", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": 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"pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q7KTS2", "url": "https://www.uniprot.org/uniprotkb/Q7KTS2" } ], "pmid": "" }, { "name": "glycophagy", "id": 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7KWG9-1" }, { "uniprot_canonical_ac": "Q7PLV6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7PLV6", "url": "https://www.uniprot.org/uniprotkb/Q7PLV6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 941, "chemical_mass": 109020.0, "gene_names": "Dmel\\CG40470;CG40470;Dmel\\CG40470;Dmel_CG40470", "protein_name": "Aminopeptidase", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular 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"id": "Q9VLD1", "url": "https://www.uniprot.org/uniprotkb/Q9VLD1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 608, "chemical_mass": 71553.0, "gene_names": "Dmel\\CG17005;CG17005;Dmel\\CG17005;Dmel_CG17005", "protein_name": "MYCBP-associated protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLD1-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Thr453", "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": 453, "start_aa": "Thr", "end_pos": 453, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr453", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VLD1-1" }, { "uniprot_canonical_ac": "Q9VTJ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTJ5", "url": "https://www.uniprot.org/uniprotkb/Q9VTJ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 383, "chemical_mass": 44007.0, "gene_names": "CG33047;Dmel\\CG11714;CG11714;CG33047;Dmel\\CG11714;Dmel_CG11714", "protein_name": "BTB domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VTJ5-1" }, { "uniprot_canonical_ac": "Q9VUY1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 893, "chemical_mass": 98028.0, "gene_names": "ClC-c;CG5284;ClC-c;ClCc;Clc-c;DmClC-c;DmClCc;Dmel\\CG5284;Dmel_CG5284;anon-WO0138359.7;clc-c", "protein_name": "Chloride channel protein", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.", "url": "https://disease-ontology.org/term/DOID:0050699", "evidence": [ { "id": "0050699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050699" } ], "weight": 0.0 }, { "disease_id": "DOID:0080353", "name": "X-linked recessive hypophosphatemic rickets", "description": "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0080353", "evidence": [ { "id": "0080353", "database": "AGR", "url": 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Extra-renal involvement is absent.", "url": "https://disease-ontology.org/term/DOID:0081453", "evidence": [ { "id": "0081453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081453" } ], "weight": 0.0 }, { "disease_id": "DOID:0110731", "name": "neuronal ceroid lipofuscinosis 3", "description": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.", "url": "https://disease-ontology.org/term/DOID:0110731", "evidence": [ { "id": "0110731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110731" } ], "weight": 0.0 }, { "disease_id": "DOID:0111798", "name": "X-linked nephrolithiasis type I", "description": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0111798", "evidence": [ { "id": "0111798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111798" } ], "weight": 0.0 }, { "disease_id": "DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0111815", "evidence": [ { "id": "0111815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111815" } ], "weight": 0.0 }, { "disease_id": "DOID:0112060", "name": "Raynaud-Claes syndrome", "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0112060", "evidence": [ { "id": "0112060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112060" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 }, { "disease_id": "DOID:447", "name": "renal tubular transport disease", "description": "", "url": "https://disease-ontology.org/term/DOID:447", "evidence": [ { "id": "447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:447" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" } ], "molecular_function": [ { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "chloride:proton antiporter activity", "id": "GO:0062158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062158", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" }, { "name": "endosomal lumen acidification", "id": "GO:0048388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048388", "evidence": [ { "database": "UniProtKB", "id": "Q9VUY1", "url": "https://www.uniprot.org/uniprotkb/Q9VUY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VUY1-1" }, { "uniprot_canonical_ac": "Q8IPY3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 431, "chemical_mass": 48172.0, "gene_names": "Got2;152801_at;CG4233;Dmel\\CG4233;Dmel_CG4233;Got 2;Got-2;Got2;Got;got2", "protein_name": "Aspartate aminotransferase", "disease": [ { "disease_id": "DOID:0050709", "name": "early infantile epileptic encephalopathy", "description": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.", "url": "https://disease-ontology.org/term/DOID:0050709", "evidence": [ { "id": "0050709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050709" } ], "weight": 0.0 }, { "disease_id": "DOID:0080715", "name": "developmental and epileptic encephalopathy 82", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21.", "url": "https://disease-ontology.org/term/DOID:0080715", "evidence": [ { "id": "0080715", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080715" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of 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biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "L-aspartate catabolic process", "id": "GO:0006533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006533", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "oxaloacetate metabolic process", "id": "GO:0006107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006107", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "aspartate metabolic process", "id": "GO:0006531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006531", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "L-glutamate catabolic process to aspartate", "id": "GO:0019550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019550", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "Q8IPY3", "url": "https://www.uniprot.org/uniprotkb/Q8IPY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IPY3-1" }, { "uniprot_canonical_ac": "Q9VZ32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VZ32", "url": "https://www.uniprot.org/uniprotkb/Q9VZ32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 558, "chemical_mass": 61727.0, "gene_names": "CG1961;CG11126;CG1961;CG42249;Dmel\\CG42249;Dmel_CG42249", "protein_name": "apyrase", "disease": [ { "disease_id": "DOID:0111582", "name": "hereditary arterial and articular multiple calcification syndrome", "description": "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3.", "url": "https://disease-ontology.org/term/DOID:0111582", "evidence": [ { "id": "0111582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111582" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060230", "name": "basal ganglia calcification", "description": "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.", "url": "https://disease-ontology.org/term/DOID:0060230", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ], "weight": 0.0 }, { "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:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:12215", "name": "oligohydramnios", "description": "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.", "url": "https://disease-ontology.org/term/DOID:12215", "evidence": [ { "id": "12215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12215" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3507", "name": "dermatofibrosarcoma protuberans", "description": "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.", "url": "https://disease-ontology.org/term/DOID:3507", "evidence": [ { "id": "3507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3507" } ], "weight": 0.0 }, { "disease_id": "DOID:3594", "name": "choriocarcinoma", "description": "A placenta cancer that has_material_basis_in trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3594", "evidence": [ { "id": "3594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3594" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4586", "name": "familial meningioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4586", "evidence": [ { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8549", "name": "chronic ulcer of skin", "description": "", "url": "https://disease-ontology.org/term/DOID:8549", "evidence": [ { "id": "8549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8549" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "hemocyte migration", "id": "GO:0035099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035099", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "anterior Malpighian tubule development", "id": "GO:0061327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061327", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "positive regulation of border follicle cell migration", "id": "GO:1903688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903688", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "regulation of cellular response to X-ray", "id": "GO:2000683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000683", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "wound healing, spreading of cells", "id": "GO:0044319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044319", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" } ], "molecular_function": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor binding", "id": "GO:0005172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005172", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "growth factor receptor binding", "id": "GO:0070851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070851", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q9VWP6", "url": "https://www.uniprot.org/uniprotkb/Q9VWP6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VWP6-1" }, { "uniprot_canonical_ac": "Q9VLU3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU3", "url": "https://www.uniprot.org/uniprotkb/Q9VLU3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 278, "chemical_mass": 31590.0, "gene_names": "Dmel\\CG12560;CG12560;Dmel\\CG12560;Dmel_CG12560", "protein_name": "N-acetyltransferase domain-containing protein", "disease": [], "molecular_function": [ { "name": "glycine N-acyltransferase activity", "id": "GO:0047961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047961", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU3", "url": "https://www.uniprot.org/uniprotkb/Q9VLU3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLU3-1" }, { "uniprot_canonical_ac": "Q9VX37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VX37", "url": "https://www.uniprot.org/uniprotkb/Q9VX37" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 554, "chemical_mass": 63335.0, "gene_names": "corolla;CG8316;Corolla;Dmel\\CG8316;Dmel_CG8316;corolla;mei-39", "protein_name": "", "disease": [], "biological_process": [ { "name": "female meiotic nuclear division", "id": "GO:0007143", "url": 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Abbrogates targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Glu177", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Glu178", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Asn179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Ser296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": 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"end_pos": "335", "site_lbl": "His335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Abrogates targeting of beta4GalNAcTB to the Golgi, probably by disrupting protein-protein interaction.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Pro336", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Val339", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "S", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Val340", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "S", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Pro342", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Pro346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Abrogates targeting of beta4GalNAcTB to the Golgi, probably by disrupting protein-protein interaction.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Val347", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Leu348", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Leu349", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Pro350", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": "https://www.uniprot.org/uniprotkb/Q9VQK9" }, { "database": "PubMed", "id": "21598021", "url": "https://glygen.org/publication/PubMed/21598021" } ] } ] }, { "uniprot_canonical_ac": "Q9VQK9-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Cys353", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abrogates targeting of beta4GalNAcTB to the Golgi.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQK9", "url": 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"chemical_mass": 25242.0, "gene_names": "Fer2LCH;2LCH;CG1469;Dmel\\CG1469;Dmel_CG1469;Fe2LCH;Fer-H;Fer2LCH;Fer2LC;Fer2;FerLCH;LCH;anon-EST:ParkEST264;fer2lch;fer2;l(3)00035;l(3)07016;l(3)j2A3;l(3)neo60;l(3)neo63;l(3)s2083", "protein_name": "Ferritin light chain", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "ferritin complex", "id": "GO:0070288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070288", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "response to fungus", "id": "GO:0009620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009620", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "iron ion import across plasma membrane", "id": "GO:0098711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098711", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "detoxification of iron ion", "id": "GO:1990461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990461", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" } ], "molecular_function": [ { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" }, { "name": "ferric iron binding", "id": "GO:0008199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008199", "evidence": [ { "database": "UniProtKB", "id": "Q9VA83", "url": "https://www.uniprot.org/uniprotkb/Q9VA83" } ], "pmid": "" } ], "binding_glycans": [], 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The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.", "url": "https://disease-ontology.org/term/DOID:0061186", "evidence": [ { "id": "0061186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061186" } ], "weight": 0.0 }, { "disease_id": "DOID:0070619", "name": "mitochondrial trifunctional protein deficiency 1", "description": "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein.", "url": "https://disease-ontology.org/term/DOID:0070619", "evidence": [ { "id": "0070619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070619" } ], "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: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:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "long-chain (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity", "id": "GO:0016509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016509", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "enoyl-CoA hydratase activity", "id": "GO:0004300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004300", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "3-hydroxyacyl-CoA dehydratase activity", "id": "GO:0018812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018812", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "mitochondrial fatty acid beta-oxidation multienzyme complex", "id": "GO:0016507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016507", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9V397", "url": "https://www.uniprot.org/uniprotkb/Q9V397" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V397-1" }, { "uniprot_canonical_ac": "Q9V9W3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 262, "chemical_mass": 29736.0, "gene_names": "RpL6;CG11522;Dmel\\CG11522;Dmel_CG11522;L6e;RPL6;Rp L6;RpL6;rpl6", "protein_name": "Large ribosomal subunit protein eL6", "disease": [], "cellular_component": [ { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "pmid": "" }, { "name": "cytosolic large ribosomal subunit", "id": "GO:0022625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022625", "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of ribosome", "id": "GO:0003735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003735", "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9V9W3", "url": "https://www.uniprot.org/uniprotkb/Q9V9W3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9V9W3-1" }, { "uniprot_canonical_ac": "Q9VMY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1165, "chemical_mass": 127924.0, "gene_names": "aux;AUX;Auxilin;Auxillin/DNAJC6;Aux;CG1107;DNAJC6;Dmel\\CG1107;Dmel_CG1107;GAK;anon-WO0118547.393;auxillin;aux;dAux", "protein_name": "Cyclin-G-associated kinase", "disease": [ { "disease_id": "DOID:0060891", "name": "Parkinson's disease 19A", "description": "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0060891", "evidence": [ { "id": "0060891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060891" } ], "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 } ], "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": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "AP-2 adaptor complex binding", "id": "GO:0035612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035612", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" } ], "cellular_component": [ { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "Golgi stack", "id": "GO:0005795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005795", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" } ], "biological_process": [ { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "negative regulation of autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "regulation of clathrin-dependent endocytosis", "id": "GO:2000369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000369", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q9VMY8", "url": "https://www.uniprot.org/uniprotkb/Q9VMY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VMY8-1" }, { "uniprot_canonical_ac": "Q9VI39-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI39", "url": "https://www.uniprot.org/uniprotkb/Q9VI39" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 225, "chemical_mass": 25965.0, "gene_names": "Dmel\\CG15177;CG15177;Dmel\\CG15177;Dmel_CG15177", "protein_name": "EF-hand domain-containing protein", "disease": [ { "disease_id": "DOID:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9562" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VI39", "url": "https://www.uniprot.org/uniprotkb/Q9VI39" } ], "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": "Q9VI39", "url": "https://www.uniprot.org/uniprotkb/Q9VI39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VI39-1" }, { "uniprot_canonical_ac": "Q9VCI7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 449, "chemical_mass": 47502.0, "gene_names": "RanBP3;CG10225;Dmel\\CG10225;Dmel_CG10225;GC10225;RanBP3", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "Q9VCI7", "url": "https://www.uniprot.org/uniprotkb/Q9VCI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VCI7-1" }, { "uniprot_canonical_ac": "Q9VCU4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCU4", "url": "https://www.uniprot.org/uniprotkb/Q9VCU4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 397, "chemical_mass": 45977.0, "gene_names": "CG17138;Dmel\\CG31139;BcDNA:AT07872;CG17138;CG31139;Dmel\\CG31139;Dmel_CG31139", "protein_name": "Glycosyl transferase CAP10 domain-containing protein", "disease": [ { "disease_id": "DOID:0060256", "name": "Dowling-Degos disease", "description": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.", "url": "https://disease-ontology.org/term/DOID:0060256", "evidence": [ { "id": "0060256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060256" } ], "weight": 0.0 }, { "disease_id": "DOID:0080762", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z", "description": "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.", "url": "https://disease-ontology.org/term/DOID:0080762", "evidence": [ { "id": "0080762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080762" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU4", "url": "https://www.uniprot.org/uniprotkb/Q9VCU4" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VCU4", "url": "https://www.uniprot.org/uniprotkb/Q9VCU4" } ], "pmid": "" } ], "molecular_function": [ { "name": "EGF-domain serine glucosyltransferase activity", "id": "GO:0140561", "url": 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organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8IMH2", "url": "https://www.uniprot.org/uniprotkb/Q8IMH2" } ], "pmid": "" }, { "name": "inner mitochondrial membrane organization", "id": "GO:0007007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "evidence": [ { "database": "UniProtKB", "id": "Q8IMH2", "url": "https://www.uniprot.org/uniprotkb/Q8IMH2" } ], "pmid": "" } ], "molecular_function": [ { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q8IMH2", "url": "https://www.uniprot.org/uniprotkb/Q8IMH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IMH2-1" }, { "uniprot_canonical_ac": "Q8IMK0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMK0", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8IMK0", "url": "https://www.uniprot.org/uniprotkb/Q8IMK0" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q8IMK0", "url": "https://www.uniprot.org/uniprotkb/Q8IMK0" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8IMK0", "url": "https://www.uniprot.org/uniprotkb/Q8IMK0" } ], "pmid": "" }, { "name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "id": "GO:0004571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004571", "evidence": [ { "database": "UniProtKB", "id": "Q8IMK0", "url": "https://www.uniprot.org/uniprotkb/Q8IMK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IMK0-1" }, { "uniprot_canonical_ac": "Q9VB99-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VB99", "url": "https://www.uniprot.org/uniprotkb/Q9VB99" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 228, "chemical_mass": 25015.0, "gene_names": "Tsp97E;CG6323;Dm.Tsp97E;Dmel\\CG6323;Dmel_CG6323;Tsp97E;Tspan31", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VB99", "url": "https://www.uniprot.org/uniprotkb/Q9VB99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VB99-1" }, { "uniprot_canonical_ac": "Q8IMV4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMV4", "url": 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"https://www.uniprot.org/uniprotkb/Q8IR23" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 954, "chemical_mass": 107950.0, "gene_names": "vap;CG9209;D-RasGAP;Dmel\\CG9209;Dmel_CG9209;FBpp0073946;RAS-GAP;RasGAP/Vap;RasGAP;RasGap;Vap;p120 RasGAP;p120RasGAP;rasGap;vap", "protein_name": "", "disease": [ { "disease_id": "DOID:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.", "url": "https://disease-ontology.org/term/DOID:11294", "evidence": [ { "id": "11294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001784", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor binding", "id": "GO:0005104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005104", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "torso binding", "id": "GO:0005122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005122", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of endocytosis", "id": "GO:0030100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030100", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" }, { "name": "negative regulation of torso signaling pathway", "id": "GO:0120177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120177", "evidence": [ { "database": "UniProtKB", "id": "Q8IR23", "url": "https://www.uniprot.org/uniprotkb/Q8IR23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR23-1" }, { "uniprot_canonical_ac": "Q8IR42-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 827, "chemical_mass": 93579.0, "gene_names": "drd;BcDNA:GM06434;CG32589;CG33968;CG5652;Dmel\\CG33968;Dmel_CG33968;GM06434;beltless;blt;drd;lwf", "protein_name": "", "disease": [], "cellular_component": [ { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "pmid": "" } ], "biological_process": [ { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "pmid": "" }, { "name": "digestive system process", "id": "GO:0022600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022600", "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "pmid": "" } ], "molecular_function": [ { "name": "acyltransferase activity, transferring groups other than amino-acyl groups", "id": "GO:0016747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016747", "evidence": [ { "database": "UniProtKB", "id": "Q8IR42", "url": "https://www.uniprot.org/uniprotkb/Q8IR42" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IR42-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Thr101", "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": 101, "start_aa": "Thr", "end_pos": 101, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr101", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q8IR42-1" }, { "uniprot_canonical_ac": "Q8IR47-1", "species": [ { "name": "Drosophila 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"sites": [], "record_id": "Q8IR56-1" }, { "uniprot_canonical_ac": "Q8IR95-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR95", "url": "https://www.uniprot.org/uniprotkb/Q8IR95" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 9557.0, "gene_names": "ssp7;CG32667;CG32677;Dmel\\CG32667;Dmel_CG32667;Ssp7;ssp7", "protein_name": "", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q8IR95", "url": "https://www.uniprot.org/uniprotkb/Q8IR95" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8IR95", "url": "https://www.uniprot.org/uniprotkb/Q8IR95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IR95-1" }, { "uniprot_canonical_ac": "Q8IRF2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRF2", "url": "https://www.uniprot.org/uniprotkb/Q8IRF2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 134, "chemical_mass": 15606.0, "gene_names": "NEST:bs19a11;BcDNA:AT26229;CG32299;Dmel\\CG32299;Dmel_CG32299;NEST:bs19a11", "protein_name": "HIG1 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRF2-1" }, { "uniprot_canonical_ac": "Q8IRF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRF4", "url": "https://www.uniprot.org/uniprotkb/Q8IRF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 24228.0, "gene_names": "obst-I;CG13805;CG32304;Dmel\\CG32304;Dmel_CG32304;obst-I", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8IRF4", "url": "https://www.uniprot.org/uniprotkb/Q8IRF4" } ], "pmid": "" }, { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q8IRF4", "url": "https://www.uniprot.org/uniprotkb/Q8IRF4" } ], "pmid": "" }, { "name": "external encapsulating structure", "id": "GO:0030312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030312", "evidence": [ { "database": "UniProtKB", "id": "Q8IRF4", "url": "https://www.uniprot.org/uniprotkb/Q8IRF4" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q8IRF4", "url": "https://www.uniprot.org/uniprotkb/Q8IRF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRF4-1" }, { "uniprot_canonical_ac": "Q8IRH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRH8", "url": "https://www.uniprot.org/uniprotkb/Q8IRH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 42936.0, "gene_names": "tfc;CG9134;Dmel\\CG9134;Dmel_CG9134;tfc", "protein_name": "", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH8", "url": "https://www.uniprot.org/uniprotkb/Q8IRH8" } ], "pmid": "" } ], "cellular_component": [ { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH8", "url": "https://www.uniprot.org/uniprotkb/Q8IRH8" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH8", "url": "https://www.uniprot.org/uniprotkb/Q8IRH8" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q8IRH8", "url": "https://www.uniprot.org/uniprotkb/Q8IRH8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRH8-1" }, { "uniprot_canonical_ac": "Q8IRN0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRN0", "url": "https://www.uniprot.org/uniprotkb/Q8IRN0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 27141.0, "gene_names": "CG7090;CG10962;CG7090;Dmel\\CG10962;Dmel_CG10962", "protein_name": "Farnesol dehydrogenase", "disease": [], "molecular_function": [ { "name": "17-beta-hydroxysteroid dehydrogenase (NADP+) activity", "id": "GO:0072582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072582", "evidence": [ { "database": "UniProtKB", "id": "Q8IRN0", "url": "https://www.uniprot.org/uniprotkb/Q8IRN0" } ], "pmid": "" }, { "name": "estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "id": "GO:0004303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004303", "evidence": [ { "database": "UniProtKB", "id": "Q8IRN0", "url": "https://www.uniprot.org/uniprotkb/Q8IRN0" } ], "pmid": "" }, { "name": "3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity", "id": "GO:0000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000253", "evidence": [ { "database": "UniProtKB", "id": "Q8IRN0", "url": "https://www.uniprot.org/uniprotkb/Q8IRN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8IRN0-1" }, { "uniprot_canonical_ac": "Q8IRX5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRX5", "url": "https://www.uniprot.org/uniprotkb/Q8IRX5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 284, "chemical_mass": 30236.0, "gene_names": "Dmel\\CG32808;CG32808;Dmel\\CG32808;Dmel_CG32808;EG:80H7.1;SP234", "protein_name": "Peptidase S1 domain-containing protein", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q8IRX5", "url": "https://www.uniprot.org/uniprotkb/Q8IRX5" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8IRX5", "url": "https://www.uniprot.org/uniprotkb/Q8IRX5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q8IRX5", "url": "https://www.uniprot.org/uniprotkb/Q8IRX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IRX5-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Thr147", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 147, "start_aa": "Thr", "end_pos": 147, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr147", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q8IRX5-1" }, { "uniprot_canonical_ac": "Q8MLR7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 761, "chemical_mass": 87047.0, "gene_names": "Mtmr6;8;BcDNA:GH04637;BcDNA;CG18093;CG3530;Dmel\\CG3530;Dmel_CG3530;Dmtm-6;Dmtm6;MTMR6/7/8;Mtmr6;dMtmr6", "protein_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "disease": [ { "disease_id": "DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.", "url": "https://disease-ontology.org/term/DOID:0111225", "evidence": [ { "id": "0111225", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 }, { "disease_id": "DOID:14717", "name": "centronuclear myopathy", "description": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.", "url": "https://disease-ontology.org/term/DOID:14717", "evidence": [ { "id": "14717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-3,5-bisphosphate phosphatase activity", "id": "GO:0106018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106018", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "id": "GO:0052629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052629", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8MLR7", "url": "https://www.uniprot.org/uniprotkb/Q8MLR7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLR7-1" }, { "uniprot_canonical_ac": "Q8MLS1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 22882.0, "gene_names": "Mthfs;CG11079;CG34424;Dmel\\CG34424;Dmel_CG34424;MTHF;Mthfs;anon-WO0118547.139", "protein_name": "5-formyltetrahydrofolate cyclo-ligase", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" }, { "name": "5-formyltetrahydrofolate cyclo-ligase activity", "id": "GO:0030272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030272", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" } ], "biological_process": [ { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" }, { "name": "folic acid-containing compound biosynthetic process", "id": "GO:0009396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009396", "evidence": [ { "database": "UniProtKB", "id": "Q8MLS1", "url": "https://www.uniprot.org/uniprotkb/Q8MLS1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8MLS1-1" }, { "uniprot_canonical_ac": "Q8T8S1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 334, "chemical_mass": 38000.0, "gene_names": "SCCRO3;CG13322;Dcun1d3;Dmel\\CG13322;SCCRO3;anon-WO0118547.137;dSCCRO3", "protein_name": "DCN1-like protein 3", "disease": [], "molecular_function": [ { "name": "ubiquitin-like protein binding", "id": "GO:0032182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032182", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "protein neddylation", "id": "GO:0045116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045116", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" }, { "name": "positive regulation of protein neddylation", "id": "GO:2000436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000436", "evidence": [ { "database": "UniProtKB", "id": "Q8T8S1", "url": "https://www.uniprot.org/uniprotkb/Q8T8S1" } ], "pmid": "" } ], 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"https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 852, "chemical_mass": 96930.0, "gene_names": "Cul5;CG1401;CUL5;Cul-5;Cul5;Cullin5;Dmel\\CG1401;Dmel_CG1401;cul-5;cul5;shkl", "protein_name": "Cullin-5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "Cul5-RING ubiquitin ligase complex", "id": "GO:0031466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031466", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "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": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0031146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031146", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "regulation of synaptic assembly at neuromuscular junction", "id": "GO:0008582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008582", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "germarium-derived egg chamber formation", "id": "GO:0007293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007293", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "growth of a germarium-derived egg chamber", "id": "GO:0007295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007295", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "sensory organ precursor cell fate determination", "id": "GO:0016360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016360", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" }, { "name": "ubiquitin ligase complex scaffold activity", "id": "GO:0160072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160072", "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ0", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VAQ0-1" }, { "uniprot_canonical_ac": "Q9VAQ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VAQ2", "url": "https://www.uniprot.org/uniprotkb/Q9VAQ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 316, "chemical_mass": 35213.0, "gene_names": 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[7227]" } ], "length": 111, "chemical_mass": 13517.0, "gene_names": "UQCR-14L;CG17856;Dmel\\CG17856;Dmel_CG17856;UCR6;UQCR-14L", "protein_name": "Cytochrome b-c1 complex subunit 7", "disease": [ { "disease_id": "DOID:0080112", "name": "mitochondrial complex III deficiency nuclear type 3", "description": "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0080112", "evidence": [ { "id": "0080112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080112" } ], "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 }, 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"start_pos": 359, "start_aa": "Thr", "end_pos": 359, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr359", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VBT7-1" }, { "uniprot_canonical_ac": "Q9VBT8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VBT8", "url": "https://www.uniprot.org/uniprotkb/Q9VBT8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 420, "chemical_mass": 48658.0, "gene_names": "CT33083;CG11878;CT33083;Dmel\\CG11878;Dmel_CG11878;Dro1-5", "protein_name": "CHK kinase-like domain-containing protein", "disease": [], "molecular_function": [ { "name": "ecdysteroid 22-kinase activity", "id": "GO:0106389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106389", "evidence": [ { "database": "UniProtKB", "id": "Q9VBT8", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VC26", "url": "https://www.uniprot.org/uniprotkb/Q9VC26" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q9VC26", "url": "https://www.uniprot.org/uniprotkb/Q9VC26" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q9VC26", "url": "https://www.uniprot.org/uniprotkb/Q9VC26" } ], "pmid": "" }, { "name": "histone deacetylase activity, hydrolytic mechanism", "id": "GO:0141221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141221", "evidence": [ { "database": "UniProtKB", "id": "Q9VC26", "url": "https://www.uniprot.org/uniprotkb/Q9VC26" } ], "pmid": "" } ], "cellular_component": [ { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q9VC26", "url": "https://www.uniprot.org/uniprotkb/Q9VC26" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VC26-1" }, { "uniprot_canonical_ac": "Q9VC34-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VC34", "url": "https://www.uniprot.org/uniprotkb/Q9VC34" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 28927.0, "gene_names": "Dmel\\CG6980;CG6980;Dmel\\CG6980;Dmel_CG6980;anon-WO0140519.171", "protein_name": "CG6980-PA", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, 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], "cellular_component": [ { "name": "TSC1-TSC2 complex", "id": "GO:0033596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033596", "evidence": [ { "database": "UniProtKB", "id": "Q9VCC9", "url": "https://www.uniprot.org/uniprotkb/Q9VCC9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VCC9", "url": "https://www.uniprot.org/uniprotkb/Q9VCC9" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9VCC9", "url": "https://www.uniprot.org/uniprotkb/Q9VCC9" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q9VCC9", "url": "https://www.uniprot.org/uniprotkb/Q9VCC9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VCC9-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Thr279", "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": 279, "start_aa": "Thr", "end_pos": 279, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr279", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VCC9-1" }, { "uniprot_canonical_ac": "Q9VCD8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCD8", "url": "https://www.uniprot.org/uniprotkb/Q9VCD8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1238, "chemical_mass": 142881.0, "gene_names": "SMC1;AAF56231;CG6057;DmSMC1;Dmel\\CG6057;Dmel_CG6057;SMC1;Smc1;dSMC1;smc1", "protein_name": "Structural maintenance of chromosomes protein", "disease": [ { "disease_id": "DOID:0070380", "name": "developmental and epileptic encephalopathy 85", "description": "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0070380", "evidence": [ { "id": "0070380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070380" } ], "weight": 0.0 }, { "disease_id": "DOID:0080506", "name": "Cornelia de Lange syndrome 2", "description": "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0080506", "evidence": [ { "id": "0080506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080506" } ], "weight": 0.0 }, { "disease_id": "DOID:11725", "name": "Cornelia de Lange syndrome", "description": "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.", "url": "https://disease-ontology.org/term/DOID:11725", "evidence": [ { "id": "11725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11725" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac 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"Q9VCD8-1" }, { "uniprot_canonical_ac": "Q9VCD9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCD9", "url": "https://www.uniprot.org/uniprotkb/Q9VCD9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 154, "chemical_mass": 17400.0, "gene_names": "BcDNA:RE30346;BcDNA:RE30346;CG6000;Dmel\\CG6000;Dmel_CG6000", "protein_name": "Rhodanese domain-containing protein", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VCD9", "url": "https://www.uniprot.org/uniprotkb/Q9VCD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VCD9-1" }, { "uniprot_canonical_ac": "Q9VCE0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE0", "url": "https://www.uniprot.org/uniprotkb/Q9VCE0" } ], "pmid": "" }, { "name": "phosphatidylethanolamine biosynthetic process", "id": "GO:0006646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006646", "evidence": [ { "database": "UniProtKB", "id": "Q9VCE0", "url": "https://www.uniprot.org/uniprotkb/Q9VCE0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VCE0-1" }, { "uniprot_canonical_ac": "Q9VCE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCE2", "url": "https://www.uniprot.org/uniprotkb/Q9VCE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 232, "chemical_mass": 26264.0, "gene_names": 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"biomarkers": [], "sites": [], "record_id": "Q9VCH7-1" }, { "uniprot_canonical_ac": "Q9VCN5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VCN5", "url": "https://www.uniprot.org/uniprotkb/Q9VCN5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 354, "chemical_mass": 38267.0, "gene_names": "Dmel\\CG6763;CG6763;Dmel\\CG6763;Dmel_CG6763", "protein_name": "Metalloendopeptidase", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9VCN5", "url": "https://www.uniprot.org/uniprotkb/Q9VCN5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VCN5", "url": 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} ], "pmid": "" } ], "molecular_function": [ { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "Q9VD00", "url": "https://www.uniprot.org/uniprotkb/Q9VD00" } ], "pmid": "" }, { "name": "alpha-amino-acid esterase activity", "id": "GO:0047658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047658", "evidence": [ { "database": "UniProtKB", "id": "Q9VD00", "url": "https://www.uniprot.org/uniprotkb/Q9VD00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VD00-1" }, { "uniprot_canonical_ac": "Q9VD32-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VD32", "url": "https://www.uniprot.org/uniprotkb/Q9VD32" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 165, "chemical_mass": 18783.0, 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"Leo1L;CG10887;Dmel\\CG10887;Dmel_CG10887", "protein_name": "Another transcription unit protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VDP7", "url": "https://www.uniprot.org/uniprotkb/Q9VDP7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VDP7", "url": "https://www.uniprot.org/uniprotkb/Q9VDP7" } ], "pmid": "" }, { "name": "Cdc73/Paf1 complex", "id": "GO:0016593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016593", "evidence": [ { "database": "UniProtKB", "id": "Q9VDP7", "url": "https://www.uniprot.org/uniprotkb/Q9VDP7" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", 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"url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VDP8" } ] } ] } ], "record_id": "Q9VDP8-1" }, { "uniprot_canonical_ac": "Q9VDR4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDR4", "url": "https://www.uniprot.org/uniprotkb/Q9VDR4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1809, "chemical_mass": 205880.0, "gene_names": "CG11460;CG11460;CG31213;CG4794;DmCG31213;Dmel\\CG31213;Dmel_CG31213", "protein_name": "ABC transporter domain-containing protein", "disease": [ { "disease_id": "DOID:11161", "name": "neonatal respiratory failure", "description": "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.", "url": "https://disease-ontology.org/term/DOID:11161", "evidence": [ { "id": "11161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11161" 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} ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VDR4", "url": "https://www.uniprot.org/uniprotkb/Q9VDR4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDR4-1" }, { "uniprot_canonical_ac": "Q9VDT1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDT1", "url": "https://www.uniprot.org/uniprotkb/Q9VDT1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 405, "chemical_mass": 43654.0, "gene_names": "Arc42;Arc42;CG4703;Dmel\\CG4703;Dmel_CG4703;dARC42", "protein_name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080154", "name": "short chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder 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"biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT1", "url": "https://www.uniprot.org/uniprotkb/Q9VDT1" } ], "pmid": "" }, { "name": "butyrate catabolic process", "id": "GO:0046359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046359", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT1", "url": "https://www.uniprot.org/uniprotkb/Q9VDT1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDT1-1" }, { "uniprot_canonical_ac": "Q9VDW7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDW7", "url": "https://www.uniprot.org/uniprotkb/Q9VDW7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 342, "chemical_mass": 35871.0, "gene_names": "Scsalpha2;AAF55672;CG6255;Dmel\\CG6255;Dmel_CG6255;Scsa2;Scsalpha2;anon-WO0140519.197", "protein_name": "Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0080128", "name": "mitochondrial DNA depletion syndrome 9", "description": "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.", "url": "https://disease-ontology.org/term/DOID:0080128", "evidence": [ { "id": "0080128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080128" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": 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fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 213, "chemical_mass": 24820.0, "gene_names": "Dmel\\CG6013;CG6013;Dmel\\CG6013;Dmel_CG6013", "protein_name": "Coiled-coil domain-containing protein", "disease": [], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q9VE08", "url": "https://www.uniprot.org/uniprotkb/Q9VE08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VE08", "url": "https://www.uniprot.org/uniprotkb/Q9VE08" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q9VE08", "url": "https://www.uniprot.org/uniprotkb/Q9VE08" } ], "pmid": "" } ], "biological_process": [ { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q9VE08", "url": "https://www.uniprot.org/uniprotkb/Q9VE08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VE08-1" }, { "uniprot_canonical_ac": "Q9VE18-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VE18", "url": "https://www.uniprot.org/uniprotkb/Q9VE18" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 509, "chemical_mass": 57334.0, "gene_names": "Smu1;CG5451;Dmel\\CG5451;Dmel_CG5451;Smu1;dsmu1", "protein_name": "WD40 repeat-containing protein SMU1", "disease": [], "biological_process": [ { "name": "terminal button organization", "id": "GO:0072553", "url": 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[7227]" } ], "length": 487, "chemical_mass": 53035.0, "gene_names": "Wdr37;CG12333;Dmel\\CG12333;Dmel_CG12333;Wdr37;wdr37", "protein_name": "WD repeat-containing protein 37", "disease": [ { "disease_id": "DOID:0111675", "name": "neurooculocardiogenitourinary syndrome", "description": "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3.", "url": "https://disease-ontology.org/term/DOID:0111675", "evidence": [ { "id": "0111675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111675" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VE73", "url": "https://www.uniprot.org/uniprotkb/Q9VE73" } ], "pmid": "" }, { "name": 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{ "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEA0", "url": "https://www.uniprot.org/uniprotkb/Q9VEA0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 334, "chemical_mass": 36472.0, "gene_names": "SP132;CG7142;Dmel\\CG7142;Dmel_CG7142;SP132", "protein_name": "Peptidase S1 domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q9VEA0", "url": "https://www.uniprot.org/uniprotkb/Q9VEA0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VEA0", "url": "https://www.uniprot.org/uniprotkb/Q9VEA0" } ], "pmid": "" } ], 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 217, "chemical_mass": 25325.0, "gene_names": "Dmel\\CG14315;CG14315;Dmel\\CG14315;Dmel_CG14315", "protein_name": "DUF7775 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VED1-1" }, { "uniprot_canonical_ac": "Q9VED4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VED4", "url": "https://www.uniprot.org/uniprotkb/Q9VED4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 448, "chemical_mass": 52862.0, "gene_names": "bard;CG14317;Dmel\\CG14317;Dmel_CG14317;anon-WO0172774.95;bard", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { 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"UniProtKB", "id": "Q9VF10", "url": "https://www.uniprot.org/uniprotkb/Q9VF10" } ], "pmid": "" }, { "name": "negative regulation of imaginal disc growth", "id": "GO:0045571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045571", "evidence": [ { "database": "UniProtKB", "id": "Q9VF10", "url": "https://www.uniprot.org/uniprotkb/Q9VF10" } ], "pmid": "" }, { "name": "proximal/distal pattern formation, imaginal disc", "id": "GO:0007449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007449", "evidence": [ { "database": "UniProtKB", "id": "Q9VF10", "url": "https://www.uniprot.org/uniprotkb/Q9VF10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VF10-1" }, { "uniprot_canonical_ac": "Q9VF15-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 153, "chemical_mass": 17088.0, "gene_names": "glob1;CG9734;DmHb1;DmHb;DmeGb1;DmeGlob1;Dmel\\CG9734;Dmel_CG9734;DroHb;Glob1;Hb;dmeglob1;glob1;globin1", "protein_name": "", "disease": [ { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080770", "name": "autosomal dominant beta thalassemia", "description": "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.", "url": "https://disease-ontology.org/term/DOID:0080770", "evidence": [ { "id": "0080770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080770" } ], "weight": 0.0 }, { "disease_id": "DOID:0080773", "name": "delta beta-thalassemia", "description": "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.", "url": "https://disease-ontology.org/term/DOID:0080773", "evidence": [ { "id": "0080773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080773" } ], "weight": 0.0 }, { "disease_id": "DOID:0081445", "name": "sickle cell disease", "description": "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia).", "url": "https://disease-ontology.org/term/DOID:0081445", "evidence": [ { "id": "0081445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081445" } ], "weight": 0.0 }, { "disease_id": "DOID:0110031", "name": "hemoglobin H disease", "description": "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.", "url": "https://disease-ontology.org/term/DOID:0110031", "evidence": [ { "id": "0110031", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110031" } ], "weight": 0.0 }, { "disease_id": "DOID:0111363", "name": "Heinz body anemia", "description": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.", "url": "https://disease-ontology.org/term/DOID:0111363", "evidence": [ { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" } ], "weight": 0.0 }, { "disease_id": "DOID:0111631", "name": "familial erythrocytosis 7", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0111631", "evidence": [ { "id": "0111631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111631" } ], "weight": 0.0 }, { "disease_id": "DOID:0111632", "name": "familial erythrocytosis 6", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.", "url": "https://disease-ontology.org/term/DOID:0111632", "evidence": [ { "id": "0111632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111632" } ], "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:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes.", "url": "https://disease-ontology.org/term/DOID:1099", "evidence": [ { "id": "1099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2859", "name": "hemoglobin C disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2859", "evidence": [ { "id": "2859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2859" } ], "weight": 0.0 }, { "disease_id": "DOID:2860", "name": "hemoglobinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:2860", "evidence": [ { "id": "2860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2860" } ], "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: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:589", "name": "congenital hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:589", "evidence": [ { "id": "589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:589" } ], "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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "peroxidase activity", "id": "GO:0004601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004601", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" } ], "biological_process": [ { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" }, { "name": "oxygen transport", "id": "GO:0015671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015671", "evidence": [ { "database": "UniProtKB", "id": "Q9VF15", "url": "https://www.uniprot.org/uniprotkb/Q9VF15" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VF15-1" }, { "uniprot_canonical_ac": "Q9VF24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1470, "chemical_mass": 167843.0, "gene_names": "cv-d;CG31150;CG9622;CG9625;CG9627;Cv-D;Cv-d;Dmel\\CG31150;Dmel_CG31150;cv-d", "protein_name": "", "disease": [], "molecular_function": [ { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "pmid": "" }, { "name": "BMP binding", "id": "GO:0036122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036122", "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "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": "Q9VF24", "url": "https://www.uniprot.org/uniprotkb/Q9VF24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VF24-1", "start_pos": "1322", "end_pos": "1322", "site_lbl": "Thr1322", "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": 1322, "start_aa": "Thr", "end_pos": 1322, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1322", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VF24-1" }, { "uniprot_canonical_ac": "Q9VF37-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VF37", "url": "https://www.uniprot.org/uniprotkb/Q9VF37" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 744, "chemical_mass": 85770.0, "gene_names": "c(3)G;C(3)G;C3G;CG17604;Dmel\\CG17604;Dmel_CG17604;c(3)G;c(3)g;c3G;cx", "protein_name": "", "disease": [], "biological_process": [ { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 28130.0, "gene_names": "Uros2;BcDNA:AT11468;CG9589;Dmel\\CG9589;Dmel_CG9589;Uros2", "protein_name": "Uroporphyrinogen-III synthase", "disease": [ { "disease_id": "DOID:13270", "name": "erythropoietic protoporphyria", "description": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.", "url": "https://disease-ontology.org/term/DOID:13270", "evidence": [ { "id": "13270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13270" } ], "weight": 0.0 }, { "disease_id": "DOID:13271", "name": "cutaneous porphyria", "description": "", "url": "https://disease-ontology.org/term/DOID:13271", "evidence": [ { "id": "13271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13271" } ], "weight": 0.0 } ], "cellular_component": [ { "name": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGB9-1" }, { "uniprot_canonical_ac": "Q9VGC2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 415, "chemical_mass": 44880.0, "gene_names": "Dmel\\CG4860;ACAD11;ACADS;CG4860;Dmel\\CG4860;Dmel_CG4860", "protein_name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0080154", "name": "short chain acyl-CoA dehydrogenase deficiency", "description": "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.", "url": "https://disease-ontology.org/term/DOID:0080154", "evidence": [ { "id": "0080154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080154" } ], "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 } ], "molecular_function": [ { "name": "acyl-CoA dehydrogenase activity", "id": "GO:0003995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003995", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "pmid": "" }, { "name": "short-chain fatty acyl-CoA dehydrogenase activity", "id": "GO:0016937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016937", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": "https://www.uniprot.org/uniprotkb/Q9VGC2" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q9VGC2", "url": 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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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": 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"name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "Q9VGS8", "url": "https://www.uniprot.org/uniprotkb/Q9VGS8" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VGS8", "url": "https://www.uniprot.org/uniprotkb/Q9VGS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGS8-1" }, { "uniprot_canonical_ac": "Q9VGT3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGT3", "url": "https://www.uniprot.org/uniprotkb/Q9VGT3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 528, "chemical_mass": 60175.0, "gene_names": "Ugt302C1;AC 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[7227]" } ], "length": 204, "chemical_mass": 22713.0, "gene_names": "BVR;BVR;CG9471;Dmel\\CG9471;Dmel_CG9471", "protein_name": "NAD(P)-binding domain-containing protein", "disease": [], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VH72", "url": "https://www.uniprot.org/uniprotkb/Q9VH72" } ], "pmid": "" } ], "molecular_function": [ { "name": "biliverdin reductase [NAD(P)H] activity", "id": "GO:0004074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004074", "evidence": [ { "database": "UniProtKB", "id": "Q9VH72", "url": "https://www.uniprot.org/uniprotkb/Q9VH72" } ], "pmid": "" }, { "name": "riboflavin reductase (NADPH) activity", "id": "GO:0042602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042602", "evidence": [ { "database": "UniProtKB", "id": "Q9VH72", "url": "https://www.uniprot.org/uniprotkb/Q9VH72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH72-1" }, { "uniprot_canonical_ac": "Q9VH76-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 212, "chemical_mass": 23554.0, "gene_names": "Snap24;CG9474;Dmel\\CG9474;Dmel_CG9474;SNAP-24;SNAP-25b;SNAP24;Snap24;Snap25b;dSnap24;snap24", "protein_name": "Synaptosomal-associated protein", "disease": [ { "disease_id": "DOID:0110683", "name": "developmental and epileptic encephalopathy 117", "description": "A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.", "url": "https://disease-ontology.org/term/DOID:0110683", "evidence": [ { "id": "0110683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110683" } ], "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: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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" } ], "molecular_function": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" } ], "biological_process": [ { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "membrane fusion", "id": "GO:0061025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061025", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "Q9VH76", "url": "https://www.uniprot.org/uniprotkb/Q9VH76" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH76-1" }, { "uniprot_canonical_ac": "Q9VH77-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH77", "url": "https://www.uniprot.org/uniprotkb/Q9VH77" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 396, "chemical_mass": 44774.0, "gene_names": "Mpi;CG8417;Dmel\\CG8417;Dmel_CG8417;MPI;Mpi;dMPI", "protein_name": "mannose-6-phosphate isomerase", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 }, { "disease_id": "DOID:0080554", "name": "congenital disorder of glycosylation Ib", "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.", "url": "https://disease-ontology.org/term/DOID:0080554", "evidence": [ { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ], "weight": 0.0 }, { "disease_id": "DOID:2978", "name": "carbohydrate metabolic disorder", "description": "An inherited metabolic disorder that affect the catabolism and 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], "pmid": "" }, { "name": "GDP-mannose biosynthetic process", "id": "GO:0009298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009298", "evidence": [ { "database": "UniProtKB", "id": "Q9VH77", "url": "https://www.uniprot.org/uniprotkb/Q9VH77" } ], "pmid": "" }, { "name": "GDP-D-mannose biosynthetic process from fructose-6-phosphate", "id": "GO:0061729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061729", "evidence": [ { "database": "UniProtKB", "id": "Q9VH77", "url": "https://www.uniprot.org/uniprotkb/Q9VH77" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VH77", "url": "https://www.uniprot.org/uniprotkb/Q9VH77" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH77-1" }, { "uniprot_canonical_ac": "Q9VH99-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH99", "url": "https://www.uniprot.org/uniprotkb/Q9VH99" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 286, "chemical_mass": 30034.0, "gene_names": "Fst;CG9434;Dmel\\CG9434;Dmel_CG9434;Fst;frost;fst", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VH99", "url": "https://www.uniprot.org/uniprotkb/Q9VH99" } ], "pmid": "" } ], "biological_process": [ { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "Q9VH99", "url": "https://www.uniprot.org/uniprotkb/Q9VH99" } ], "pmid": "" }, { "name": "cold acclimation", "id": "GO:0009631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009631", "evidence": [ { "database": "UniProtKB", "id": "Q9VH99", "url": "https://www.uniprot.org/uniprotkb/Q9VH99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH99-1" }, { "uniprot_canonical_ac": "Q9VHC5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 854, "chemical_mass": 97194.0, "gene_names": "Kdm3;CG31123;CG8165;Dmel\\CG8165;JHDM2;KDM3;Kdm3;kdm3", "protein_name": "Lysine-specific demethylase 3", "disease": [ { "disease_id": "DOID:0050634", "name": "alopecia universalis", "description": "An alopecia characterized by the complete loss of hair on the scalp and body.", "url": "https://disease-ontology.org/term/DOID:0050634", "evidence": [ { "id": "0050634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050634" } ], "weight": 0.0 }, { "disease_id": "DOID:0060689", "name": "atrichia with papular lesions", "description": "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.", "url": "https://disease-ontology.org/term/DOID:0060689", "evidence": [ { "id": "0060689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060689" } ], "weight": 0.0 }, { "disease_id": "DOID:0110701", "name": "hypotrichosis 4", "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3.", "url": "https://disease-ontology.org/term/DOID:0110701", "evidence": [ { "id": "0110701", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110701" } ], "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:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3369", "name": "Ewing sarcoma", "description": "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm.", "url": "https://disease-ontology.org/term/DOID:3369", "evidence": [ { "id": "3369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3369" } ], "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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": 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"chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "circadian behavior", "id": "GO:0048512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048512", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "negative regulation of heterochromatin formation", "id": "GO:0031452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031452", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "regulation of piRNA transcription", "id": "GO:0140542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140542", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "histone H3K9 demethylase activity", "id": "GO:0032454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032454", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" }, { "name": "histone H3K9me/H3K9me2 demethylase activity", "id": "GO:0140683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140683", "evidence": [ { "database": "UniProtKB", "id": "Q9VHC5", "url": "https://www.uniprot.org/uniprotkb/Q9VHC5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHC5-1" }, { "uniprot_canonical_ac": "Q9VHE5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHE5", "url": "https://www.uniprot.org/uniprotkb/Q9VHE5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 168, "chemical_mass": 18431.0, "gene_names": "RpL34b;CG9354;Dmel\\CG9354;Dmel_CG9354;L34b;Rp L34b;RpL34b;RpL34;anon-EST:fe1C10;anon-EST:fe1E8", "protein_name": "Large ribosomal subunit protein eL34", "disease": [], "biological_process": [ { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "Q9VHE5", "url": "https://www.uniprot.org/uniprotkb/Q9VHE5" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": 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[], "sites": [], "record_id": "Q9VHE5-1" }, { "uniprot_canonical_ac": "Q9VHG1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHG1", "url": "https://www.uniprot.org/uniprotkb/Q9VHG1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 833, "chemical_mass": 95972.0, "gene_names": "Vps16A;CG8454;DmVps16;Dmel\\CG8454;V16;Vps16A;Vps16a;Vps16;dVps16A;ma;vps16A;vps16a", "protein_name": "Vacuolar protein sorting-associated protein 16 homolog", "disease": [ { "disease_id": "DOID:0060937", "name": "dystonia 30", "description": "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. 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"gene_names": "Dmel\\CG11997;CG11997;Dmel\\CG11997;Dmel_CG11997", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHH5-1" }, { "uniprot_canonical_ac": "Q9VHH8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHH8", "url": "https://www.uniprot.org/uniprotkb/Q9VHH8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 557, "chemical_mass": 61390.0, "gene_names": "beag;CG18005;Dmel\\CG18005;Dmel_CG18005;beag", "protein_name": "", "disease": [], "biological_process": [ { "name": "terminal button organization", "id": "GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "Q9VHH8", "url": "https://www.uniprot.org/uniprotkb/Q9VHH8" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": 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"protein_name": "Betaine-homocysteine S-methyltransferase", "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: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:0050733", "name": "methylmalonic aciduria and homocystinuria type cblG", "description": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.", "url": "https://disease-ontology.org/term/DOID:0050733", "evidence": [ { "id": "0050733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050733" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" }, { "name": "betaine-homocysteine S-methyltransferase activity", "id": "GO:0047150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047150", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" }, { "name": "S-methylmethionine-homocysteine S-methyltransferase activity", "id": "GO:0061627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061627", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" }, { "name": "S-adenosylmethionine-homocysteine S-methyltransferase activity", "id": "GO:0008898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008898", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" }, { "name": "S-methylmethionine cycle", "id": "GO:0033528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033528", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ31", "url": "https://www.uniprot.org/uniprotkb/Q9VJ31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ31-1" }, { "uniprot_canonical_ac": "Q9VJ41-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ41", "url": "https://www.uniprot.org/uniprotkb/Q9VJ41" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 689, "chemical_mass": 79942.0, "gene_names": "Dmel\\CG33120;CG10599;CG33120;Dmel\\CG33120;Dmel_CG33120", "protein_name": "O-acyltransferase WSD1 C-terminal 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": "Q9VJ41", "url": "https://www.uniprot.org/uniprotkb/Q9VJ41" } ], "pmid": "" } ], "biological_process": [ { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ41", "url": "https://www.uniprot.org/uniprotkb/Q9VJ41" } ], "pmid": "" } ], "molecular_function": [ { "name": "O-acyltransferase activity", "id": "GO:0008374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008374", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ41", "url": "https://www.uniprot.org/uniprotkb/Q9VJ41" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ41-1" }, { "uniprot_canonical_ac": "Q9VJ43-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 544, "chemical_mass": 59008.0, "gene_names": "ScpX;CG17320;Dmel\\CG17320;Dmel_CG17320;ScpX", "protein_name": "Sterol carrier protein 2", "disease": [ { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.", "url": "https://disease-ontology.org/term/DOID:905", "evidence": [ { "id": "905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:905" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "propionyl-CoA C2-trimethyltridecanoyltransferase activity", "id": "GO:0050632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050632", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "phospholipid transporter activity", "id": "GO:0005548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005548", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "acetyl-CoA C-acyltransferase activity", "id": "GO:0003988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003988", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "acetyl-CoA C-myristoyltransferase activity", "id": "GO:0050633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050633", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ43", "url": "https://www.uniprot.org/uniprotkb/Q9VJ43" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ43-1" }, { "uniprot_canonical_ac": "Q9VJ45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ45", "url": "https://www.uniprot.org/uniprotkb/Q9VJ45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 517, "chemical_mass": 57675.0, "gene_names": "Ugt36E1;BEST:LD25345;CG17322;Dmel\\CG17322;Dmel_CG17322;LD25345;UGT36E1;Ugt36E1", "protein_name": "UDP-glucuronosyltransferase", "disease": [], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ45", "url": "https://www.uniprot.org/uniprotkb/Q9VJ45" } ], "pmid": "" }, { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ45", "url": "https://www.uniprot.org/uniprotkb/Q9VJ45" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ45", "url": "https://www.uniprot.org/uniprotkb/Q9VJ45" } ], "pmid": "" }, { "name": "endoplasmic reticulum 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"Q9VJ46-1" }, { "uniprot_canonical_ac": "Q9VJ53-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ53", "url": "https://www.uniprot.org/uniprotkb/Q9VJ53" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 116, "chemical_mass": 12905.0, "gene_names": "Dmel\\CG15167;CG15167;Dmel\\CG15167;Dmel_CG15167", "protein_name": "Acylphosphatase-like domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ53-1" }, { "uniprot_canonical_ac": "Q9VJ55-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 540, "chemical_mass": 59407.0, "gene_names": "Dmel\\CG10348;CG10348;Dmel\\CG10348;Dmel_CG10348;PRDM16;lincRNA.186", "protein_name": "C2H2-type domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "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": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "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": "Q9VJ55", "url": "https://www.uniprot.org/uniprotkb/Q9VJ55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ55-1" }, { "uniprot_canonical_ac": "Q9VJ63-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ63", "url": "https://www.uniprot.org/uniprotkb/Q9VJ63" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 417, "chemical_mass": 47387.0, "gene_names": "Dmel\\CG10338;CG10338;Dmel\\CG10338;Dmel_CG10338", "protein_name": "RUS family member 1", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ63", "url": "https://www.uniprot.org/uniprotkb/Q9VJ63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VJ63-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Thr20", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 20, "start_aa": "Thr", "end_pos": 20, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr20", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VJ63-1" }, { "uniprot_canonical_ac": "Q9VJ68-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ68", "url": "https://www.uniprot.org/uniprotkb/Q9VJ68" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 417, "chemical_mass": 47485.0, "gene_names": "Hykk;CG15163;CG15164;CG31751;Dmel\\CG31751;Dmel_CG31751;anon-ct;ct", "protein_name": "Hydroxylysine kinase", "disease": [ { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of 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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:9252", "name": "amino acid metabolic disorder", "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", "url": "https://disease-ontology.org/term/DOID:9252", "evidence": [ { "id": "9252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9252" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ68", "url": "https://www.uniprot.org/uniprotkb/Q9VJ68" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydroxylysine kinase activity", "id": "GO:0047992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047992", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ68", "url": "https://www.uniprot.org/uniprotkb/Q9VJ68" } ], "pmid": "" }, { "name": "amino acid kinase activity", "id": "GO:0019202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019202", "evidence": [ { "database": "UniProtKB", "id": "Q9VJ68", "url": "https://www.uniprot.org/uniprotkb/Q9VJ68" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VJ68-1" }, { "uniprot_canonical_ac": "Q9VJ80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ80", "url": "https://www.uniprot.org/uniprotkb/Q9VJ80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1394, "chemical_mass": 155517.0, "gene_names": "Dmel\\CG10211;CG10211;DBLOX;Dmel\\CG10211;Dmel_CG10211", "protein_name": "", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9362", "name": "status asthmaticus", "description": "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant.", "url": "https://disease-ontology.org/term/DOID:9362", "evidence": [ { "id": "9362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9362" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. 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"url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VJ80-1" }, { "uniprot_canonical_ac": "Q9VJ85-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJ85", "url": "https://www.uniprot.org/uniprotkb/Q9VJ85" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 130, "chemical_mass": 14583.0, "gene_names": "Ntf-2r;CG10174;Dmel\\CG10174;Dmel_CG10174;Dntf-2R;Dntf-2r;Dntf-2;Ntf-2r", "protein_name": "NTF2-related export protein", "disease": [ { "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", 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and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.", "url": "https://disease-ontology.org/term/DOID:0111180", "evidence": [ { "id": "0111180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111180" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. 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"extrahepatic bile duct adenocarcinoma", "description": "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3495", "evidence": [ { "id": "3495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3495" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": 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