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"url": "https://www.uniprot.org/uniprotkb/X2JD42" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 92, "chemical_mass": 9901.0, "gene_names": "Dmel\\CG45081;CG45081;CG9666-CDS_overlap;Dmel\\CG45081;Dmel_CG45081;FBgn0266456", "protein_name": "Secreted protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "X2JD42-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Thr23", "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": 23, "start_aa": "Thr", "end_pos": 23, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr23", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A0A0B4JCV2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4JCV2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4JCV2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 67, "chemical_mass": 7623.0, "gene_names": "Dmel\\CG42867;CG42867;Dmel\\CG42867;Dmel_CG42867", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A0A0B4K6B2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K6B2", "url": "https://www.uniprot.org/uniprotkb/A0A0B4K6B2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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"A0A0B4KF52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KF52", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 41736.0, "gene_names": "Osi4;CG10303;Dmel\\CG10303;Dmel_CG10303;Osi4", "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": "A0A0B4KF52", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF52" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KF52", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KF52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A0A0B4KGJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGJ7", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 984, "chemical_mass": 113174.0, "gene_names": "Dmel\\CG15923;CG15923;Dmel\\CG15923;Dmel_CG15923", "protein_name": "Meckelin", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111001", "name": "Joubert syndrome 6", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.", "url": "https://disease-ontology.org/term/DOID:0111001", "evidence": [ { "id": "0111001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111001" } ], "weight": 0.0 }, { "disease_id": "DOID:0111118", "name": "nephronophthisis 11", "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.", "url": "https://disease-ontology.org/term/DOID:0111118", "evidence": [ { "id": "0111118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111118" } ], "weight": 0.0 }, { "disease_id": "DOID:0111589", "name": "COACH syndrome", "description": "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).", "url": "https://disease-ontology.org/term/DOID:0111589", "evidence": [ { "id": "0111589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111589" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:1088", "name": "meningocele", "description": "A spina bifida that is characterized by herniation of the meninges between the vertebrae.", "url": "https://disease-ontology.org/term/DOID:1088", "evidence": [ { "id": "1088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1088" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 }, { "disease_id": "DOID:12712", "name": "nephronophthisis", "description": "A kidney disease that is 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"A0A0B4KGP4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGP4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGP4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 446, "chemical_mass": 50384.0, "gene_names": "beat-IV;Beat-IV;CG10152;CG13823;Dmel\\CG10152;Dmel_CG10152;beat IV;beat-IV;beatIV", "protein_name": "", "disease": [], "cellular_component": [ { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGP4", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KGP4" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KGP4", "url": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 918, "chemical_mass": 100150.0, "gene_names": "Lerp;CG14255;CG14256;CG31072;CG6390;CG6396;Dmel\\CG31072;Dmel_CG31072;LERP;Lerp;anon-WO0118547.383", "protein_name": "", "disease": [ { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { 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"" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8IQV1", "url": "https://www.uniprot.org/uniprotkb/Q8IQV1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8IQV1", "url": "https://www.uniprot.org/uniprotkb/Q8IQV1" } ], "pmid": "" } ], "biological_process": [ { "name": "sulfate assimilation", "id": "GO:0000103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000103", "evidence": [ { "database": "UniProtKB", "id": "Q8IQV1", "url": "https://www.uniprot.org/uniprotkb/Q8IQV1" } ], "pmid": "" }, { "name": "3'-phosphoadenosine 5'-phosphosulfate biosynthetic process", "id": "GO:0050428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050428", "evidence": [ { "database": "UniProtKB", "id": "Q8IQV1", "url": "https://www.uniprot.org/uniprotkb/Q8IQV1" } 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activity", "id": "GO:0005049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005049", "evidence": [ { "database": "UniProtKB", "id": "X2J9Y4", "url": "https://www.uniprot.org/uniprotkb/X2J9Y4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VHF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 199, "chemical_mass": 21651.0, "gene_names": "drn;BcDNA:RE70963;CG16750;CG16751;CG30492;CG33187;CG33188;CG33936;CG33937;CG43674;CG45050;Dmel\\CG45050;Dmel_CG45050;anon-85Da;anon-EST:fe1B11;anon-EST:fe2G11;drn", "protein_name": "", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF4", "url": "https://www.uniprot.org/uniprotkb/Q9VHF4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VTL9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTL9", "url": "https://www.uniprot.org/uniprotkb/Q9VTL9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 604, "chemical_mass": 67059.0, "gene_names": "Sugb;CG7334;Dmel\\CG7334;Dmel_CG7334;Sugb;Sug;sug", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VTL9", "url": "https://www.uniprot.org/uniprotkb/Q9VTL9" } ], "pmid": "" } ], "biological_process": [ { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VTL9", "url": "https://www.uniprot.org/uniprotkb/Q9VTL9" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VTL9", "url": "https://www.uniprot.org/uniprotkb/Q9VTL9" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9VTL9", "url": "https://www.uniprot.org/uniprotkb/Q9VTL9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "M9MRT1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MRT1", "url": "https://www.uniprot.org/uniprotkb/M9MRT1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 351, "chemical_mass": 39655.0, "gene_names": "chr2L_10724193_10724543.0;CG6431;Dmel\\CG6431;Dmel_CG6431;chr2L_10724193_10724543.0", "protein_name": "Lipase domain-containing protein", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", 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functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or 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}, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 343, "chemical_mass": 39706.0, "gene_names": "Dmel\\CG14020;CG14020;Dmel\\CG14020;Dmel_CG14020", "protein_name": "Transmembrane protein 231", "disease": [ { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0110989", "name": "Joubert syndrome 20", "description": "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.", "url": "https://disease-ontology.org/term/DOID:0110989", "evidence": [ { "id": 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"sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "M9PG24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PG24", "url": "https://www.uniprot.org/uniprotkb/M9PG24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 11383.0, "gene_names": "Dmel\\CG43931;CG43931;Dmel\\CG43931;Dmel_CG43931", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "M9PG80-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 555, "chemical_mass": 59143.0, "gene_names": "tj;CG10034;DM13;Dmaf;Dmel\\CG10034;Dmel_CG10034;PL3;TJ;Tj;fs(2)eo-B;fs(2)eo2;fs(2)eoPL3;maf-L;maf1;tj", "protein_name": "", "disease": [ { "disease_id": "DOID:0061029", "name": "Duane retraction syndrome 3", "description": "A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.", "url": "https://disease-ontology.org/term/DOID:0061029", "evidence": [ { "id": "0061029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061029" } ], "weight": 0.0 }, { "disease_id": "DOID:0061232", "name": "enhanced S-cone syndrome 2", "description": "A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.", "url": "https://disease-ontology.org/term/DOID:0061232", "evidence": [ { "id": "0061232", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "M9PG80", "url": "https://www.uniprot.org/uniprotkb/M9PG80" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": 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"description": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting).", "url": "https://disease-ontology.org/term/DOID:0050450", "evidence": [ { "id": "0050450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050450" } ], "weight": 0.0 }, { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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"UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "cell volume homeostasis", "id": "GO:0006884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006884", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "cellular hyperosmotic response", "id": "GO:0071474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071474", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "positive regulation of potassium ion import across plasma membrane", "id": "GO:1903288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903288", "evidence": [ { "database": "UniProtKB", "id": "M9PGC5", "url": "https://www.uniprot.org/uniprotkb/M9PGC5" } ], "pmid": "" }, { "name": "monoatomic ion homeostasis", "id": "GO:0050801", "url": 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}, { "uniprot_canonical_ac": "Q8I937-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8I937", "url": "https://www.uniprot.org/uniprotkb/Q8I937" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 349, "chemical_mass": 39455.0, "gene_names": "BcDNA:LD24586;BcDNA:LD24586;CG32409;Dmel\\CG32409;Dmel_CG32409", "protein_name": "Ribosome biogenesis regulatory protein", "disease": [ { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": 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"disease": [], "molecular_function": [ { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "Q8IND7", "url": "https://www.uniprot.org/uniprotkb/Q8IND7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8INL3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INL3", "url": "https://www.uniprot.org/uniprotkb/Q8INL3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 196, "chemical_mass": 22548.0, "gene_names": "Dmel\\CG31373;CG31373;CG6482;Dmel\\CG31373;Dmel_CG31373;PDF", "protein_name": "Peptide deformylase", "disease": [], "molecular_function": [ { "name": "peptide deformylase activity", "id": "GO:0042586", "url": 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"batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8INZ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8INZ5", "url": "https://www.uniprot.org/uniprotkb/Q8INZ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 763, "chemical_mass": 88344.0, "gene_names": "Dmel\\CG31784;CG31784;Dmel\\CG31784;Dmel_CG31784;NEST:bs05c10", "protein_name": "CCDC113/CCDC96 coiled-coil domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IP88-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IP88", "url": "https://www.uniprot.org/uniprotkb/Q8IP88" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 20806.0, "gene_names": "Dmel\\CG31862;CG31862;Dmel\\CG31862;Dmel_CG31862", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IPD6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPD6", "url": "https://www.uniprot.org/uniprotkb/Q8IPD6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 161, "chemical_mass": 19404.0, "gene_names": "Desr;BcDNA:AT29184;CG31875;CG5831;Desr;Dmel\\CG31875;Dmel_CG31875;FBgn0051875", "protein_name": "ELM2 domain-containing protein", "disease": [], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IPD6", "url": "https://www.uniprot.org/uniprotkb/Q8IPD6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IPF4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPF4", "url": "https://www.uniprot.org/uniprotkb/Q8IPF4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1005, "chemical_mass": 118087.0, "gene_names": "Dmel\\CG31897;CG31897;Dmel\\CG31897;Dmel_CG31897;NEST:bs30d08", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IPL4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPL4", "url": "https://www.uniprot.org/uniprotkb/Q8IPL4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 31912.0, "gene_names": "l(2)05714;CG8886;Dmel\\CG8886;Dmel_CG8886;l(2)05714;l(2)05715", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IPS7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IPS7", "url": "https://www.uniprot.org/uniprotkb/Q8IPS7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 534, "chemical_mass": 60119.0, "gene_names": "Dmel\\CG32454;CG11367;CG32454;Dmel\\CG32454;Dmel_CG32454", "protein_name": "Aminopeptidase P N-terminal domain-containing protein", "disease": [ { "disease_id": "DOID:0111117", "name": "nephronophthisis-like nephropathy 1", "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.", "url": "https://disease-ontology.org/term/DOID:0111117", "evidence": [ { "id": "0111117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111117" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8IPS7", "url": "https://www.uniprot.org/uniprotkb/Q8IPS7" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8IPS7", "url": "https://www.uniprot.org/uniprotkb/Q8IPS7" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q8IPS7", "url": "https://www.uniprot.org/uniprotkb/Q8IPS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IQI2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IQI2", "url": "https://www.uniprot.org/uniprotkb/Q8IQI2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1413, "chemical_mass": 159826.0, "gene_names": "Dmel\\CG32106;mlncRNA69E2;BcDNA:GH24302;CG32106;Dmel\\CG32106;Dmel_CG32106;FBgn0052106;mlncRNA69E2", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IQI2-1", "start_pos": "896", "end_pos": "896", "site_lbl": "Thr896", "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": 896, "start_aa": "Thr", "end_pos": 896, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr896", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IR48-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR48", "url": "https://www.uniprot.org/uniprotkb/Q8IR48" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 541, "chemical_mass": 58658.0, "gene_names": "sbm;CG9413;Dmel\\CG9413;Dmel_CG9413;Sbm;sbm", "protein_name": "b(0,+)-type amino acid transporter 1", "disease": [ { "disease_id": "DOID:9266", "name": "cystinuria", "description": "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.", "url": 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cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q8IR48", "url": "https://www.uniprot.org/uniprotkb/Q8IR48" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8IR48", "url": "https://www.uniprot.org/uniprotkb/Q8IR48" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q8IR48", "url": "https://www.uniprot.org/uniprotkb/Q8IR48" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IR52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 3321, "chemical_mass": 338549.0, "gene_names": "Muc12Ea;CG32602;CG5228;Dmel\\CG32602;Dmel_CG32602;Muc12Ea", "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": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0061118", "name": "autosomal dominant tubulointerstitial kidney disease 2", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0061118", "evidence": [ { "id": "0061118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061118" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13891", "name": "bird fancier's lung", "description": "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.", "url": "https://disease-ontology.org/term/DOID:13891", "evidence": [ { "id": "13891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13891" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3030", "name": "mucinous adenocarcinoma", "description": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.", "url": "https://disease-ontology.org/term/DOID:3030", "evidence": [ { "id": "3030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3030" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8622", "name": "measles", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.", "url": "https://disease-ontology.org/term/DOID:8622", "evidence": [ { "id": "8622", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8622" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" }, { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "molecular_function": [ { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "biological_process": [ { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q8IR52", "url": "https://www.uniprot.org/uniprotkb/Q8IR52" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IR52-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Thr548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 548, "start_aa": "Thr", "end_pos": 548, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr548", "evidence": [ { "id": 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], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IR64-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IR64", "url": "https://www.uniprot.org/uniprotkb/Q8IR64" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 144, "chemical_mass": 16833.0, "gene_names": "Dmel\\CG32625;CG32625;Dmel\\CG32625;Dmel_CG32625", "protein_name": "CHHC U11-48K-type domain-containing protein", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8IR64", "url": "https://www.uniprot.org/uniprotkb/Q8IR64" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IRB1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRB1", "url": "https://www.uniprot.org/uniprotkb/Q8IRB1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 18448.0, "gene_names": "Dmel\\CG32248;CG32248;Dmel\\CG32248;Dmel_CG32248", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IRE3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1320, "chemical_mass": 149116.0, "gene_names": "gry;CG17569;Dmel\\CG17569;Dmel_CG17569;TRAPPC11;gryz;gry;l(3)63Bd", "protein_name": "Trafficking protein particle complex subunit 11", "disease": [ { "disease_id": "DOID:0110287", "name": "autosomal recessive limb-girdle muscular dystrophy type 2S", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0110287", "evidence": [ { "id": "0110287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110287" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": 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"database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" }, { "name": "Golgi vesicle transport", "id": "GO:0048193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048193", "evidence": [ { "database": "UniProtKB", "id": "Q8IRE3", "url": "https://www.uniprot.org/uniprotkb/Q8IRE3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8IRE3-1", "start_pos": "1060", "end_pos": "1060", "site_lbl": "Thr1060", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1060, "start_aa": "Thr", "end_pos": 1060, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1060", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IRJ5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 386, "chemical_mass": 44342.0, "gene_names": "Dmel\\CG32845;CG32845;Dmel\\CG32845;Dmel_CG32845", "protein_name": "peptidylprolyl isomerase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "pmid": "" }, { "name": "regulation of macromolecule metabolic process", "id": "GO:0060255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060255", "evidence": [ { "database": "UniProtKB", "id": "Q8IRJ5", "url": "https://www.uniprot.org/uniprotkb/Q8IRJ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q8IRK1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRK1", "url": "https://www.uniprot.org/uniprotkb/Q8IRK1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 272, "chemical_mass": 30572.0, "gene_names": "CG13569-1;CG13569-1;CG13569;CG43775;Dmel\\CG43775;Dmel_CG43775", "protein_name": "SCP 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": "Q8IRK1", "url": 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"chemical_mass": 35637.0, "gene_names": "Art9;Art9;CG9929;DART9;Dmel\\CG9929;Dmel_CG9929", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP9", "url": "https://www.uniprot.org/uniprotkb/Q9VFP9" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP9", "url": "https://www.uniprot.org/uniprotkb/Q9VFP9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VFP9", "url": "https://www.uniprot.org/uniprotkb/Q9VFP9" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", 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"evidence": [ { "database": "UniProtKB", "id": "Q9VFY3", "url": "https://www.uniprot.org/uniprotkb/Q9VFY3" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "Q9VFY3", "url": "https://www.uniprot.org/uniprotkb/Q9VFY3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VGJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VGJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 21019.0, "gene_names": "I-t;CG14719;Dmel\\CG14719;Dmel_CG14719;I-t;pp1d6", "protein_name": "", "disease": [], "molecular_function": [ { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "Q9VGJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VGJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VGJ2-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Thr43", "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": 43, "start_aa": "Thr", "end_pos": 43, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr43", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VGJ2", "database": "O-GlcNAc Database", "url": 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"database": "UniProtKB", "id": "Q9VGT8", "url": "https://www.uniprot.org/uniprotkb/Q9VGT8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 517, "chemical_mass": 58756.0, "gene_names": "Ugt35C1;AC 006491D;CG6633;Dmel\\CG6633;Dmel_CG6633;UGT35C1;Ugt35C1;Ugt86Dd", "protein_name": "UDP-glucuronosyltransferase", "disease": [ { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:11151", "name": "cholecystolithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:11151", "evidence": [ { "id": "11151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11151" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", 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"https://www.uniprot.org/uniprotkb/Q9VJZ1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9VJZ1", "url": "https://www.uniprot.org/uniprotkb/Q9VJZ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein disulfide isomerase activity", "id": "GO:0003756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003756", "evidence": [ { "database": "UniProtKB", "id": "Q9VJZ1", "url": "https://www.uniprot.org/uniprotkb/Q9VJZ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VLM3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "pmid": "" }, { "name": "amino acid transmembrane transporter activity", "id": "GO:0015171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015171", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "pmid": "" } ], "cellular_component": [ { "name": "vacuolar membrane", "id": "GO:0005774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005774", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q9VLM3", "url": "https://www.uniprot.org/uniprotkb/Q9VLM3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VLN9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLN9", "url": "https://www.uniprot.org/uniprotkb/Q9VLN9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 252, "chemical_mass": 26714.0, "gene_names": "Dmel\\CG14273;CG14273;Dmel\\CG14273;Dmel_CG14273", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VLP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLP0", "url": "https://www.uniprot.org/uniprotkb/Q9VLP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 187, "chemical_mass": 20422.0, "gene_names": "witty;CG14274;Dmel\\CG14274;Dmel_CG14274;witty", "protein_name": "", "disease": [], "biological_process": [ { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP0", "url": "https://www.uniprot.org/uniprotkb/Q9VLP0" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP0", "url": "https://www.uniprot.org/uniprotkb/Q9VLP0" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, cholinergic", "id": "GO:0032222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032222", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP0", "url": "https://www.uniprot.org/uniprotkb/Q9VLP0" } ], "pmid": "" } ], "cellular_component": [ { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q9VLP0", "url": "https://www.uniprot.org/uniprotkb/Q9VLP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VME3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VME3", "url": "https://www.uniprot.org/uniprotkb/Q9VME3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 684, "chemical_mass": 79706.0, "gene_names": "Nepl5;CG9507;Dmel\\CG9507;Dmel_CG9507;Nepl5", "protein_name": "", "disease": [ { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by 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biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q9VPR6", "url": "https://www.uniprot.org/uniprotkb/Q9VPR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VQ01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 299, "chemical_mass": 32575.0, "gene_names": "Dmel\\CG5556;CG5556;Dmel\\CG5556;Dmel_CG5556", "protein_name": "", "disease": [], "molecular_function": [ { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "pmid": "" }, { "name": "pseudouridine 5'-phosphatase activity", "id": "GO:1990738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990738", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ01", "url": "https://www.uniprot.org/uniprotkb/Q9VQ01" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VQH0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQH0", "url": "https://www.uniprot.org/uniprotkb/Q9VQH0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 554, "chemical_mass": 61419.0, "gene_names": "Pykl2;CG2964;Dmel\\CG2964;Dmel_CG2964", "protein_name": "Pyruvate kinase", "disease": [ { "disease_id": "DOID:0111077", "name": "congenital nonspherocytic hemolytic anemia 2", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111077", "evidence": [ { "id": "0111077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111077" } ], "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:12365", "name": "malaria", "description": "A parasitic protozoa 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"chemical_mass": 31173.0, "gene_names": "Dmel\\CG1722;CG1722;Dmel\\CG1722;Dmel_CG1722;cg1722", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VRK2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRK2", "url": "https://www.uniprot.org/uniprotkb/Q9VRK2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 225, "chemical_mass": 25736.0, "gene_names": "Dmel\\CG4597;CG4597;Dmel_CG4597", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VS64-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS64", "url": "https://www.uniprot.org/uniprotkb/Q9VS64" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 440, "chemical_mass": 50053.0, "gene_names": "Dmel\\CG8563;CG8563;Dmel\\CG8563;Dmel_CG8563", "protein_name": "Peptidase M14 domain-containing protein", "disease": [ { "disease_id": "DOID:0060752", "name": "familial temporal lobe epilepsy 5", "description": "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.", "url": "https://disease-ontology.org/term/DOID:0060752", "evidence": [ { "id": "0060752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060752" } ], "weight": 0.0 }, { "disease_id": "DOID:0111308", "name": "familial febrile seizures 11", "description": "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.", "url": "https://disease-ontology.org/term/DOID:0111308", "evidence": [ { "id": "0111308", "database": "AGR", "url": 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"site_lbl": "Thr350", "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": 350, "start_aa": "Thr", "end_pos": 350, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr350", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VSG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSG9", "url": "https://www.uniprot.org/uniprotkb/Q9VSG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 698, "chemical_mass": 80201.0, 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"name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV4", "url": "https://www.uniprot.org/uniprotkb/Q9VSV4" } ], "pmid": "" }, { "name": "wing disc dorsal/ventral pattern formation", "id": "GO:0048190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048190", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV4", "url": "https://www.uniprot.org/uniprotkb/Q9VSV4" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV4", "url": "https://www.uniprot.org/uniprotkb/Q9VSV4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9VTD5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 333, "chemical_mass": 38108.0, "gene_names": "hng3;CG13897;CG13987;Dmel\\CG13897;Dmel_CG13897;anon-WO0118547.557;hng3", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N1", "url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N1", "url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9W0N1", "url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "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": "Q9W0N1", "url": "https://www.uniprot.org/uniprotkb/Q9W0N1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9W0X9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0X9", "url": "https://www.uniprot.org/uniprotkb/Q9W0X9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 219, "chemical_mass": 23791.0, "gene_names": "CT12588;CG3770;CT12588;Dmel\\CG3770;Dmel_CG3770", "protein_name": "Lipoma HMGIC fusion partner-like 2 protein", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W0X9", "url": "https://www.uniprot.org/uniprotkb/Q9W0X9" } ], "pmid": "" }, { "name": "septate junction", "id": "GO:0005918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005918", "evidence": [ { "database": "UniProtKB", "id": "Q9W0X9", "url": "https://www.uniprot.org/uniprotkb/Q9W0X9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9W161-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W161", "url": "https://www.uniprot.org/uniprotkb/Q9W161" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 208, "chemical_mass": 23157.0, "gene_names": "Dmel\\CG13581;BcDNA:AT03240;CG13581;Dmel\\CG13581;Dmel_CG13581", "protein_name": "Sperm microtubule inner protein 1 C-terminal domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W161-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9W1B3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1B3", "url": "https://www.uniprot.org/uniprotkb/Q9W1B3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 603, "chemical_mass": 68252.0, "gene_names": "Dmel\\CG10339;CG10339;Dmel\\CG10339;Dmel_CG10339", "protein_name": "Carboxylesterase type B domain-containing protein", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061689", "evidence": [ { "database": "UniProtKB", "id": "Q9W1B3", "url": "https://www.uniprot.org/uniprotkb/Q9W1B3" } ], "pmid": "" }, { "name": "septate junction", "id": "GO:0005918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005918", "evidence": [ { "database": "UniProtKB", "id": "Q9W1B3", "url": "https://www.uniprot.org/uniprotkb/Q9W1B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9W1M4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1M4", "url": "https://www.uniprot.org/uniprotkb/Q9W1M4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 238, "chemical_mass": 25992.0, "gene_names": "Eglp1;Aqp5398;CG5398;Dmel\\CG5398;Dmel_CG5398;Eglp 1;Eglp1;anon-WO0140519.151", "protein_name": "", "disease": [ { 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increasing seizures and cognitive decline.", "url": "https://disease-ontology.org/term/DOID:0080315", "evidence": [ { "id": "0080315", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080315" } ], "weight": 0.0 }, { "disease_id": "DOID:0080743", "name": "transverse myelitis", "description": "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.", "url": "https://disease-ontology.org/term/DOID:0080743", "evidence": [ { "id": "0080743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080743" } ], "weight": 0.0 }, { "disease_id": "DOID:0081061", "name": "nephrogenic diabetes insipidus type 2", "description": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0081061", "evidence": [ { "id": "0081061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081061" } ], "weight": 0.0 }, { "disease_id": "DOID:0110251", "name": "cataract 15 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110251", "evidence": [ { "id": "0110251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110251" } ], "weight": 0.0 }, { "disease_id": "DOID:0111707", "name": "Bothnian type palmoplantar keratoderma", "description": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.", "url": "https://disease-ontology.org/term/DOID:0111707", "evidence": [ { "id": "0111707", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111707" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": 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"id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "jump response", "id": "GO:0007630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007630", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "P13607", "url": "https://www.uniprot.org/uniprotkb/P13607" } ], "pmid": "" }, { "name": "regulation of tube diameter, open tracheal system", "id": "GO:0035158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035158", "evidence": [ { "database": 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elements (e.g. dorsal cuticle) and the most ventral pattern element (mesoderm) are absent.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Gly363", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "In EA 8; results in completely dorsalized embryos.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Gly371", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "In EA 161.13; results in weakly ventralized embryos with ventral denticle bands that are approximately normal in width and the filzkorper have the normal tubular morphology.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] } ] }, { "uniprot_canonical_ac": "P13582-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Pro373", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "I", "comment": "Probable loss of catalytic activity results in partially defective dorsoventral patterning; during gastrulation, shows defective ventralization; in late embryogenesis results in moderately dorsalized embryos presenting defective lateral filzkorper, head skeleton and ventral denticles.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "In EA 5022; probable loss of catalytic activity results in partially defective dorsoventral patterning; in gastrulation, shows an intermediate ventralization with the headfold prominent on the dorsal side and some anteriorward displacement of posterior cells along the dorsal site; in late embryogenesis, shows partial filzkorper and head skeleton, as well as ventral denticles erroneously in dorsal position.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" }, { "database": "PubMed", "id": "2107028", "url": "https://glygen.org/publication/PubMed/2107028" } ] }, { "sequence_org": "P", "sequence_mut": "Y", "comment": "Probable loss of catalytic activity results in partially defective dorsoventral patterning; during gastrulation, shows defective ventralization; in late embryogenesis results in moderately dorsalized embryos presenting defective lateral filzkorper, head skeleton and ventral denticles.", "evidence": [ { "database": "UniProtKB", "id": "P13582", "url": "https://www.uniprot.org/uniprotkb/P13582" }, { "database": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P09478-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P09478", "url": "https://www.uniprot.org/uniprotkb/P09478" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 567, "chemical_mass": 64019.0, "gene_names": "nAChRalpha1;AChRalpha1;AChR;AChr;ALS;ALs;Acr96Aa;Acr96A;AcrB;CG5610-PA;CG5610;Dalpha1 nAChR;Dalpha1;Dmel\\CG5610;Dmel_CG5610;EMS1;NAcRa96Aa;alpha-like;alpha1;als;dALS;nAChR-alpha96Aa;nAChRDalpha1;nAChRa1;nAChRalpha-96Aa;nAChRalpha1;nAChR;nAcRalpha-96Aa;nAcRs;nAcr96Aa", "protein_name": "Acetylcholine receptor subunit alpha-like 1", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060681", "name": "autosomal dominant nocturnal frontal lobe epilepsy", "description": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.", "url": "https://disease-ontology.org/term/DOID:0060681", "evidence": [ { "id": "0060681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060681" } ], "weight": 0.0 }, { "disease_id": "DOID:0060682", "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0060682", "evidence": [ { "id": "0060682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060682" } ], "weight": 0.0 }, { "disease_id": "DOID:0060684", "name": "autosomal dominant nocturnal frontal lobe epilepsy 3", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0060684", "evidence": [ { "id": "0060684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060684" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110664", "name": "congenital myasthenic syndrome 3C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110664", "evidence": [ { "id": "0110664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110664" } ], "weight": 0.0 }, { "disease_id": "DOID:0110665", "name": "congenital myasthenic syndrome 3B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110665", "evidence": [ { "id": "0110665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110665" } ], "weight": 0.0 }, { "disease_id": "DOID:0110666", "name": "congenital myasthenic syndrome 3A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110666", "evidence": [ { "id": "0110666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110666" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:0110680", "name": "congenital myasthenic syndrome 2C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110680", "evidence": [ { "id": "0110680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110680" } ], "weight": 0.0 }, { "disease_id": "DOID:0110681", "name": "congenital myasthenic syndrome 2A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110681", "evidence": [ { "id": "0110681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110681" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ 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"database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cleavage furrow ingression", "id": "GO:1990386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990386", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A6", "url": "https://www.uniprot.org/uniprotkb/A1Z7A6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A1Z7A8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 634, "chemical_mass": 70558.0, "gene_names": "coil;CG8710;Coilin;Dmel\\CG8710;Dmel_CG8710;coil", "protein_name": "Coilin", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "Cajal body", "id": "GO:0015030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015030", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "histone locus body", "id": "GO:0035363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035363", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" } ], "biological_process": [ { "name": "Cajal body organization", "id": "GO:0030576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030576", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "A1Z7A8", "url": "https://www.uniprot.org/uniprotkb/A1Z7A8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A1Z7Z9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1134, "chemical_mass": 129643.0, "gene_names": "dila;CG1625;CG1626;DILA;Dila;Dmel\\CG1625;Dmel_CG1625;azi1;cep131;dila", "protein_name": "Centrosomal protein of 131 kDa", "disease": [ { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "ciliary basal body-plasma membrane docking", "id": "GO:0097711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097711", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "intraciliary transport", "id": "GO:0042073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "protein localization to ciliary transition zone", "id": "GO:1904491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904491", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "ciliary transition zone assembly", "id": "GO:1905349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905349", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "peripheral nervous system neuron development", "id": "GO:0048935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048935", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" } ], "cellular_component": [ { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": 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{ "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A1Z7Z9", "url": "https://www.uniprot.org/uniprotkb/A1Z7Z9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1Z7Z9-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Thr297", "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": 297, "start_aa": "Thr", "end_pos": 297, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr297", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A1Z8E9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8E9", "url": "https://www.uniprot.org/uniprotkb/A1Z8E9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 55632.0, "gene_names": "BBS4;BBS4;CG13232;Dmel\\CG13232;Dmel_CG13232", "protein_name": "BBSome complex member BBS4 homolog", "disease": [ { "disease_id": "DOID:0110126", "name": "Bardet-Biedl syndrome 4", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.", "url": "https://disease-ontology.org/term/DOID:0110126", "evidence": [ { "id": "0110126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110126" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "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 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:0110927", "name": "nemaline myopathy 3", "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0110927", "evidence": [ { "id": "0110927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110927" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:3191", "name": "nemaline myopathy", "description": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. 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"GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "autophagosome-lysosome fusion", "id": "GO:0061909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061909", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" } ], "cellular_component": [ { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "cytoplasmic side of lysosomal membrane", "id": "GO:0098574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098574", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" }, { "name": "BLOC-1 complex", "id": "GO:0031083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031083", "evidence": [ { "database": "UniProtKB", "id": "A1Z9S1", "url": "https://www.uniprot.org/uniprotkb/A1Z9S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A1ZAI5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAI5", "url": "https://www.uniprot.org/uniprotkb/A1ZAI5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 625, "chemical_mass": 69683.0, "gene_names": "Dmel\\CG5065;2;CG5065;Dmel\\CG5065;Dmel_CG5065;FAR1/2;FAR1", "protein_name": "Putative fatty acyl-CoA reductase CG5065", "disease": [ { "disease_id": "DOID:0081243", "name": "rhizomelic chondrodysplasia punctate type 4", "description": "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.", "url": "https://disease-ontology.org/term/DOID:0081243", "evidence": [ { "id": "0081243", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081243" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", 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"uniprot_canonical_ac": "A1ZAI5-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 76, "start_aa": "Thr", "end_pos": 76, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr76", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "A1ZAV1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAV1", "url": "https://www.uniprot.org/uniprotkb/A1ZAV1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. 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"https://www.uniprot.org/uniprotkb/P07764" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P07764", "url": "https://www.uniprot.org/uniprotkb/P07764" } ], "pmid": "" }, { "name": "fructose catabolic process", "id": "GO:0006001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006001", "evidence": [ { "database": "UniProtKB", "id": "P07764", "url": "https://www.uniprot.org/uniprotkb/P07764" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07764", "url": "https://www.uniprot.org/uniprotkb/P07764" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P07764", "url": "https://www.uniprot.org/uniprotkb/P07764" } ], 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"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": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "P07764-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Arg60", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "In m4; reduced protein levels and/or enzymatic activity resulting in reduced production of ATP by glycolysis. 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cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "P02574", "url": "https://www.uniprot.org/uniprotkb/P02574" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P07487-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 35369.0, "gene_names": "Gapdh2;CG8893;Dmel\\CG8893;Dmel_CG8893;GA3PDH;GADPH;GAPDH II;GAPDH2;GAPDH;GAP;Gapdh-2;Gapdh13F;Gapdh2;Gapdh;Gapd;dmGAPDH;gapdh2;gapdh", "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase 2", "disease": [ { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "glyceraldehyde-3-phosphate metabolic process", "id": "GO:0019682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019682", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" } ], "molecular_function": [ { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity", "id": "GO:0004365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004365", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylase activity", "id": "GO:0035605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035605", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P07487-1", "start_pos": "273", "end_pos": "273", "site_lbl": "Tyr273", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "P07487", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07487" } ] } ] }, { "uniprot_canonical_ac": "P07487-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Thr274", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P07487", "url": "https://www.uniprot.org/uniprotkb/P07487" }, { "database": "PubMed", "id": "17372656", "url": "https://glygen.org/publication/PubMed/17372656" }, { "database": "iPTMnet", "id": "P07487", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07487" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "O02002-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 323, "chemical_mass": 35927.0, "gene_names": "Dcp-1;CG5370;DCP-1;DCP1;DCp-1;Dcp-1;Dcp1;Dmel\\CG5370;cDcp-1;cDcp;ccp1;dcp-1;dcp1;l(2)01862;l(2)02132", "protein_name": "Caspase-1", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:1002", "name": "endometritis", "description": "An endometrial disease that is characterized by inflammation of the endometrium.", "url": "https://disease-ontology.org/term/DOID:1002", "evidence": [ { "id": "1002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1002" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11996", "name": "spermatic cord torsion", "description": "", "url": "https://disease-ontology.org/term/DOID:11996", "evidence": [ { "id": "11996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11996" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 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"https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O02002", "url": "https://www.uniprot.org/uniprotkb/O02002" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "O02649", "url": "https://www.uniprot.org/uniprotkb/O02649" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 573, "chemical_mass": 60809.0, "gene_names": "Hsp60A;12;BP5;CG12101;Cpn60;Dm10A;DmHsp60;Dmel\\CG12101;Dmhsp60;G62;HSP60A;HSP60;Hsp 60;Hsp60A;Hsp60;Hsp64;IEF16;Mmp-P1;SSP 7506;cpn60;d-hsp60;hsp60A;hsp60;l(1)10Ac;l(1)BP5;l(1)G8;l(1)HM21;l(1)L12;l(1)dp025", "protein_name": "Heat shock protein 60A", "disease": [ { "disease_id": "DOID:0060789", "name": "hypomyelinating leukodystrophy 4", "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0060789", "evidence": [ { "id": "0060789", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060789" } ], "weight": 0.0 }, { "disease_id": "DOID:0110766", "name": "hereditary spastic paraplegia 13", "description": "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0110766", "evidence": [ { "id": "0110766", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110766" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy 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that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060681", "name": "autosomal dominant nocturnal frontal lobe epilepsy", "description": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.", "url": "https://disease-ontology.org/term/DOID:0060681", "evidence": [ { "id": "0060681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060681" } ], "weight": 0.0 }, { "disease_id": "DOID:0060684", "name": "autosomal dominant nocturnal frontal lobe epilepsy 3", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 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inside bend of the elbows, back of the knees and armpits.", "url": "https://disease-ontology.org/term/DOID:0080110", "evidence": [ { "id": "0080110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080110" } ], "weight": 0.0 }, { "disease_id": "DOID:0110662", "name": "congenital myasthenic syndrome 1B", "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110662", "evidence": [ { "id": "0110662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110662" } ], "weight": 0.0 }, { "disease_id": "DOID:0110663", "name": "congenital myasthenic syndrome 1A", "description": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.", "url": "https://disease-ontology.org/term/DOID:0110663", "evidence": [ { "id": "0110663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110663" } ], "weight": 0.0 }, { "disease_id": "DOID:0110664", "name": "congenital myasthenic syndrome 3C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110664", "evidence": [ { "id": "0110664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110664" } ], "weight": 0.0 }, { "disease_id": "DOID:0110665", "name": "congenital myasthenic syndrome 3B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110665", "evidence": [ { "id": "0110665", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110665" } ], "weight": 0.0 }, { "disease_id": "DOID:0110666", "name": "congenital myasthenic syndrome 3A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110666", "evidence": [ { "id": "0110666", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110666" } ], "weight": 0.0 }, { "disease_id": "DOID:0110677", "name": "congenital myasthenic syndrome 4B", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110677", "evidence": [ { "id": "0110677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110677" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:0110680", "name": "congenital myasthenic syndrome 2C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110680", "evidence": [ { "id": "0110680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110680" } ], "weight": 0.0 }, { "disease_id": "DOID:0110681", "name": "congenital myasthenic syndrome 2A", "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110681", "evidence": [ { "id": "0110681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110681" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005231", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "P04755", "url": "https://www.uniprot.org/uniprotkb/P04755" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04755-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Asn48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "P04755", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P04755#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P05031-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P05031", "url": "https://www.uniprot.org/uniprotkb/P05031" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 510, "chemical_mass": 57288.0, "gene_names": "Ddc;AADC;CG10697;DDC;DdcDm;Ddc;Dmel\\CG10697;ddc;fDDC;l(2)37Bl;l(2)37Ch;l(2)k02104", "protein_name": "Aromatic-L-amino-acid decarboxylase", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0090123", "name": "aromatic L-amino acid decarboxylase deficiency", "description": "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.", "url": "https://disease-ontology.org/term/DOID:0090123", "evidence": [ { "id": "0090123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090123" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": 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"biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P07668-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Thr671", "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": 671, "start_aa": "Thr", "end_pos": 671, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr671", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "P07668-1", "start_pos": "261", "end_pos": "261", "site_lbl": "His261", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] } ] }, { "uniprot_canonical_ac": "P07668-1", "start_pos": "386", "end_pos": "386", "site_lbl": "His386", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] } ] }, { "uniprot_canonical_ac": "P07668-1", "start_pos": "419", "end_pos": "419", "site_lbl": "His419", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "P07668", "url": "https://www.uniprot.org/uniprotkb/P07668" }, { "database": "PubMed", "id": "8515270", "url": "https://glygen.org/publication/PubMed/8515270" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P07713-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 588, "chemical_mass": 65868.0, "gene_names": "dpp;BMP;Bmp;CG9885;DPP-C;DPP;Dm-DPP;DmDPP;Dmel\\CG9885;Dpp/TGFbeta;Dpp;Hin-d;M(2)23AB;M(2)LS1;TGF-beta;TGF-b;TGFbeta;Tgfbeta;Tg;blk;dpp;ho;l(2)10638;l(2)22Fa;l(2)k17036;shv", "protein_name": "Protein decapentaplegic", "disease": [ { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ], "weight": 0.0 }, { "disease_id": "DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.", "url": "https://disease-ontology.org/term/DOID:0050651", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ], "weight": 0.0 }, { "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:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060887", "name": "ossification of the posterior longitudinal ligament of spine", "description": "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.", "url": "https://disease-ontology.org/term/DOID:0060887", "evidence": [ { "id": "0060887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060887" } ], "weight": 0.0 }, { "disease_id": "DOID:0060989", "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1", "description": "A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0060989", "evidence": [ { "id": "0060989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060989" } ], "weight": 0.0 }, { "disease_id": "DOID:0080015", "name": "physical disorder", "description": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.", "url": "https://disease-ontology.org/term/DOID:0080015", "evidence": [ { "id": "0080015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080015" } ], "weight": 0.0 }, { "disease_id": 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is characterized by fusion of maxilla and mandible.", "url": "https://disease-ontology.org/term/DOID:0080313", "evidence": [ { "id": "0080313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080313" } ], "weight": 0.0 }, { "disease_id": "DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.", "url": "https://disease-ontology.org/term/DOID:0080404", "evidence": [ { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:0111029", "name": "hemochromatosis type 1", "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.", "url": "https://disease-ontology.org/term/DOID:0111029", "evidence": [ { "id": "0111029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111029" } ], "weight": 0.0 }, { "disease_id": "DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": 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reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": 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0.0 }, { "disease_id": "DOID:1222", "name": "cartilage disease", "description": "A connective tissue disease that is located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:1222", "evidence": [ { "id": "1222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1222" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates 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characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally 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"GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "cardioblast differentiation", "id": "GO:0010002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010002", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "male germ-line stem cell population maintenance", "id": "GO:0036098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036098", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal/ventral axis specification", "id": 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maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "maternal specification of dorsal/ventral axis, oocyte, soma encoded", "id": "GO:0007313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007313", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "larval lymph gland hemocyte differentiation", "id": "GO:0035168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035168", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "eye-antennal disc development", "id": "GO:0035214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035214", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "amnioserosa formation", "id": "GO:0007378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007378", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc-derived wing vein specification", "id": "GO:0007474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007474", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" 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"pmid": "" }, { "name": "fusion cell fate specification", "id": "GO:0035156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035156", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "regulation of tube diameter, open tracheal system", "id": "GO:0035158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035158", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "labial disc development", "id": "GO:0035217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035217", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc anterior/posterior pattern formation", "id": "GO:0035224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035224", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "genital disc sexually dimorphic development", "id": "GO:0035263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035263", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" } ], "pmid": "" }, { "name": "wing and notum subfield formation", "id": "GO:0035309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035309", "evidence": [ { "database": "UniProtKB", "id": "P07713", "url": "https://www.uniprot.org/uniprotkb/P07713" 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"description": "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.", "url": "https://disease-ontology.org/term/DOID:0111547", "evidence": [ { "id": "0111547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111547" } ], "weight": 0.0 }, { "disease_id": "DOID:0111740", "name": "X-linked deafness 6", "description": "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3.", "url": "https://disease-ontology.org/term/DOID:0111740", "evidence": [ { "id": "0111740", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111740" } ], "weight": 0.0 }, { 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"gsb;BSH-9;BSH9c2;BSH9;CG3388;Dmel\\CG3388;GSB-D;GSBB;Gsb-d;Gsb;gsb-2;gsb-distal;gsb-d;gsbBSH9;gsbd;gsb;l(2)01155;l(2)gsb", "protein_name": "Protein gooseberry", "disease": [ { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID:0081351", "name": "congenital myopathy 19", "description": "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0081351", "evidence": [ { "id": "0081351", "database": "AGR", 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"evidence": [ { "database": "UniProtKB", "id": "P09082", "url": "https://www.uniprot.org/uniprotkb/P09082" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P09082", "url": "https://www.uniprot.org/uniprotkb/P09082" } ], "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": "P09082", "url": "https://www.uniprot.org/uniprotkb/P09082" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P09082", "url": "https://www.uniprot.org/uniprotkb/P09082" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P12426", "url": "https://www.uniprot.org/uniprotkb/P12426" } ], "pmid": "" }, { "name": "purine ribonucleoside salvage", "id": "GO:0006166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006166", "evidence": [ { "database": "UniProtKB", "id": "P12426", "url": "https://www.uniprot.org/uniprotkb/P12426" } ], "pmid": "" }, { "name": "adenine salvage", "id": "GO:0006168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006168", "evidence": [ { "database": "UniProtKB", "id": "P12426", "url": "https://www.uniprot.org/uniprotkb/P12426" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P13002-6", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P13002", "url": "https://www.uniprot.org/uniprotkb/P13002" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila 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"CtsL1;CATL_DROME;CG6692;CL;CP1;CT20780;CTSL;CatL;Cath L;CathL;Cp1;Cts1;Cts2;CtsL1;CtsL;CysP-1;DCP-1;DCP1;Dcp-1;Dcp1;Dmel\\CG6692;Dmel_CG6692;cp1;fs(2)50Ca", "protein_name": "Cathepsin L1", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 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"" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of defense response to virus", "id": "GO:0050688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050688", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "alternative mRNA splicing, via spliceosome", "id": "GO:0000380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000380", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "siRNA-mediated heterochromatin formation", "id": "GO:0141194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141194", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "P19109", "url": "https://www.uniprot.org/uniprotkb/P19109" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P20482-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P20482", "url": "https://www.uniprot.org/uniprotkb/P20482" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1383, "chemical_mass": 147412.0, "gene_names": "cnc;5134;BcDNA:RE05559;CG13826;CG17894;CG43286;CG4566;CG4578;CNC_DROME;CNC;CnCC;CnC;Cnc-C;CncC;Cncc;Cnc;DM12;Dmel\\CG43286;Dmel_CG43286;NRF2;NRF;Nrf2;anon-WO0153538.6;anon-WO0153538.7;cnc-C;cnc14;cncC/Nrf2;cncC;cncc;cnc;dNrf2;l(3)03921;l(3)j5E7;nrf2", "protein_name": "Segmentation protein cap'n'collar", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P20482", "url": "https://www.uniprot.org/uniprotkb/P20482" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P20482", "url": "https://www.uniprot.org/uniprotkb/P20482" } ], "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": "P20482", "url": "https://www.uniprot.org/uniprotkb/P20482" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": 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to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q94545", "url": "https://www.uniprot.org/uniprotkb/Q94545" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q9V333-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V333", "url": "https://www.uniprot.org/uniprotkb/Q9V333" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 495, "chemical_mass": 56990.0, "gene_names": "Kdm4A;CG15835;Dmel\\CG15835;Dmel_CG15835;JMJD2AKDM4A;JMJD2A;KDM4A;Kdm4A;Kdm4a;dJMJD2(1);dKDM4A;dkdm4a;kdm4a", "protein_name": "Probable lysine-specific demethylase 4A", "disease": [ { "disease_id": "DOID:0050902", "name": "medulloblastoma", "description": "An infratentorial cancer that is located_in the 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"P81160", "url": "https://www.uniprot.org/uniprotkb/P81160" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P81160-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Asn25", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "P81160", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P81160#ptm_processing" }, { "id": "11846801", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11846801" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q24214-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24214", "url": "https://www.uniprot.org/uniprotkb/Q24214" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 170, "chemical_mass": 19267.0, "gene_names": "CanB2;CG11217;CNB2;CS2-1;CaNB2;CaN;CanB2;Dmel\\CG11217;Dmel_CG11217;canB2;dCNB2;dCnB2", "protein_name": "Calcineurin subunit B type 2", "disease": [ { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": 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"site_lbl": "Asn561", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 561, "start_aa": "Asn", "end_pos": 561, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn561", "evidence": [ { "id": "P91660", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P91660#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P31396-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 487, "chemical_mass": 55285.0, "gene_names": "Hr3;12.6;2.4;CG11823;CG12208;CG33183;DHR3;Dhr3;DmHr3;DmRORalpha;Dmel\\CG33183;Dmel_CG33183;D;HR3;Hr3;Hr46;NR1F4;dHR3;dhr3;hr46;l(2)46CFi;l(2)k09242", "protein_name": "Probable nuclear hormone receptor HR3", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 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During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.", "url": "https://disease-ontology.org/term/DOID:0080826", "evidence": [ { "id": "0080826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080826" } ], "weight": 0.0 }, { "disease_id": "DOID:0111940", "name": "immunodeficiency 42", "description": "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.", "url": "https://disease-ontology.org/term/DOID:0111940", "evidence": [ { "id": "0111940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111940" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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: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", 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"GO:0040034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040034", "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "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": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "pmid": "" }, { "name": "positive 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"molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "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": "P31396", "url": "https://www.uniprot.org/uniprotkb/P31396" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": 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development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P56721", "url": "https://www.uniprot.org/uniprotkb/P56721" } ], "pmid": "" }, { "name": 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"P16376", "url": "https://www.uniprot.org/uniprotkb/P16376" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 746, "chemical_mass": 76814.0, "gene_names": "svp;0005/12;0042/01;0106/18;0114/20;01;0351/01;0598/01;07;0861/07;12;18;20;BcDNA:GH08189;CG11502;CG18158;Dmel\\CG11502;Dmel_CG11502;NR2F3;SVP-1;SVP1;SVP;Seven-up;Svp;ck16;don;l(3)07842;l(3)87Bd;l(3)ck16;l(3)j2E2;l(3)rA028;l(3)rL069;svp", "protein_name": "Steroid receptor seven-up, isoform A", "disease": [ { "disease_id": "DOID:0080943", "name": "46,XX sex reversal 5", "description": "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080943", "evidence": [ { "id": "0080943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080943" } ], "weight": 0.0 }, { "disease_id": "DOID:0112226", "name": "Bosch-Boonstra-Schaaf optic atrophy syndrome", "description": "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.", "url": "https://disease-ontology.org/term/DOID:0112226", "evidence": [ { "id": "0112226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112226" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], 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"evidence": [ { "database": "UniProtKB", "id": "P16376", "url": "https://www.uniprot.org/uniprotkb/P16376" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16376-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 76, "start_aa": "Thr", "end_pos": 76, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr76", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "Q94514-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q94514", "url": "https://www.uniprot.org/uniprotkb/Q94514" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 149, "chemical_mass": 16622.0, "gene_names": "COX5A;CG14724;COX-5A;COX5A;COX5a;COXA_DROME;COXA;COX;CoVa;Cox5a;Dmel\\CG14724;Dmel_CG14724;Q94514;Va;cova;cox5A;mito;tend", "protein_name": "Cytochrome c oxidase subunit 5A, mitochondrial", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which 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0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "Q95V55", "url": "https://www.uniprot.org/uniprotkb/Q95V55" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q95V55", "url": "https://www.uniprot.org/uniprotkb/Q95V55" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q95V55", "url": "https://www.uniprot.org/uniprotkb/Q95V55" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q95V55", "url": "https://www.uniprot.org/uniprotkb/Q95V55" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", 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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: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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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": 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"UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "spectrin binding", "id": "GO:0030507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030507", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": "https://www.uniprot.org/uniprotkb/P22464" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P22464", "url": 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P14734", "url": "https://www.uniprot.org/uniprotkb/P14734" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 510, "chemical_mass": 54286.0, "gene_names": "fkh;CG10002;Dm-FoxA;Dmel\\CG10002;Dmel_CG10002;Dmfkh;FKH;Fkh;FoxA;Sebp2;dFoxA;fkh", "protein_name": "Protein fork head", "disease": [ { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": 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"name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P14734", "url": "https://www.uniprot.org/uniprotkb/P14734" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "P14734", "url": "https://www.uniprot.org/uniprotkb/P14734" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P14734", "url": "https://www.uniprot.org/uniprotkb/P14734" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P14734", "url": "https://www.uniprot.org/uniprotkb/P14734" } ], "pmid": "" }, { 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"cellular_component": [ { "name": "myosin V complex", "id": "GO:0031475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031475", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": 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"P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "mitotic spindle pole", "id": "GO:0097431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097431", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin VII complex", "id": "GO:0031477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031477", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin VI complex", "id": "GO:0031476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031476", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin heavy chain binding", "id": "GO:0032036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032036", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P62152", "url": "https://www.uniprot.org/uniprotkb/P62152" } ], "pmid": "" }, { "name": "myosin 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} ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 660, "chemical_mass": 75486.0, "gene_names": "fdl;CG8824;Dmel\\CG8824;Dmel_CG8824;FDL;Fdl;fdl;l(2)k17040", "protein_name": "Probable beta-hexosaminidase fdl", "disease": [ { "disease_id": "DOID:12377", "name": "spinal muscular atrophy", "description": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.", "url": "https://disease-ontology.org/term/DOID:12377", "evidence": [ { "id": "12377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12377" } ], "weight": 0.0 }, { "disease_id": "DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.", "url": 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This results in expression of the Gs-alpha protein only from the maternal allele.", "url": "https://disease-ontology.org/term/DOID:4183", "evidence": [ { "id": "4183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4183" } ], "weight": 0.0 }, { "disease_id": "DOID:4184", "name": "pseudohypoparathyroidism", "description": "A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albrights hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.", "url": "https://disease-ontology.org/term/DOID:4184", "evidence": [ { "id": "4184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4184" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in 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"https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": "https://www.uniprot.org/uniprotkb/P20354" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P20354", "url": 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Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.", "url": "https://disease-ontology.org/term/DOID:9159", "evidence": [ { "id": "9159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9159" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" } ], "biological_process": [ { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin polymerization or depolymerization", "id": "GO:0008154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008154", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07171-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Tyr612", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] }, { "uniprot_canonical_ac": "Q07171-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Tyr662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] }, { "uniprot_canonical_ac": "Q07171-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07171", "url": "https://www.uniprot.org/uniprotkb/Q07171" } ] } ] } ], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P16241-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 427, "chemical_mass": 45927.0, "gene_names": "vvl;CF1A;CG10037;Cf1-a;Cf1a/drifter/vvl;Cf1a/drifter;Cf1a;Cfla;DFR;Dfr/Vvl;Dfr;Dmel\\CG10037;Dmel_CG10037;Drf;VVL;Vv1;Vvl;dfr-vvl;dfr/vvl;dfr;drf;drifter;prd3;sep;ut;vvl/dfr/ut;vvl/dfr;vvl", "protein_name": "POU domain protein CF1A", "disease": [ { "disease_id": "DOID:0111737", "name": "X-linked deafness 2", "description": "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.", "url": "https://disease-ontology.org/term/DOID:0111737", "evidence": [ { "id": "0111737", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111737" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "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": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "brain segmentation", "id": "GO:0035284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035284", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "positive regulation of antimicrobial peptide biosynthetic process", "id": "GO:0002807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002807", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "regulation of antimicrobial peptide biosynthetic process", "id": "GO:0002805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002805", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P16241", "url": "https://www.uniprot.org/uniprotkb/P16241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.6" }, { "uniprot_canonical_ac": "P33244-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1027, "chemical_mass": 108418.0, "gene_names": "ftz-f1;BFTZ-F1;CG13378;CG4059;DEP1;DmFTZ-F1;Dmel\\CG4059;Dmel_CG4059;FIP1;FTZ-F1A;FTZ-F1alpha;FTZ-F1;FTZ-Fl;FTZF1;FTZf1alpha;Ftz-F1;Ftz-f1;Ftzf1;NR5A3;alphaFTZ-F1;alphaFTZF1;alphaftz-f1;bFTZ-F1;beta FTZ-F1;beta Ftz-f1;beta-FTZ-F1;beta-Ftz-F1;betaFTZ-F1;betaFTZF1;betaFtz-F1;betaFtz-f1;betaftz-F1;betaftz-f1;betaftzf1;dFTZ-F1alpha;dFtz-F1alpha;dmFTZ-f1;ftz-F1;ftz-f1alpha;ftz-f1;ftzF1;ftz_f1;ftzf1;l(3)03649", "protein_name": "Nuclear hormone receptor FTZ-F1", "disease": [ { "disease_id": "DOID:0070169", "name": "spermatogenic failure 8", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.", "url": "https://disease-ontology.org/term/DOID:0070169", "evidence": [ { "id": "0070169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070169" } ], "weight": 0.0 }, { "disease_id": "DOID:0080864", "name": "primary ovarian insufficiency 7", "description": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.", "url": "https://disease-ontology.org/term/DOID:0080864", "evidence": [ { "id": "0080864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080864" } ], "weight": 0.0 }, { "disease_id": "DOID:0090070", "name": "hypogonadotropic hypogonadism", "description": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.", "url": "https://disease-ontology.org/term/DOID:0090070", "evidence": [ { "id": "0090070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090070" } ], "weight": 0.0 }, { "disease_id": "DOID:0111764", "name": "46,XX sex reversal 4", "description": "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.", "url": "https://disease-ontology.org/term/DOID:0111764", "evidence": [ { "id": "0111764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111772", "name": "46,XY sex reversal 3", "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.", "url": "https://disease-ontology.org/term/DOID:0111772", "evidence": [ { "id": "0111772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111772" } ], "weight": 0.0 }, { "disease_id": "DOID:14447", "name": "gonadal dysgenesis", "description": "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.", "url": "https://disease-ontology.org/term/DOID:14447", "evidence": [ { "id": "14447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14447" } ], "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: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 } ], "biological_process": [ { "name": "regulation of development, heterochronic", "id": "GO:0040034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040034", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "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": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "pupation", "id": "GO:0035074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035074", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "instar larval or pupal development", "id": "GO:0002165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002165", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "metamorphosis", "id": "GO:0007552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007552", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "pupariation", "id": "GO:0035073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035073", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "juvenile hormone mediated signaling pathway", "id": "GO:0035626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035626", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P33244", "url": "https://www.uniprot.org/uniprotkb/P33244" } ], "pmid": "" }, { 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of development, heterochronic", "id": "GO:0040034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040034", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "regulation of cellular respiration", "id": "GO:0043457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043457", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "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": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "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": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045938", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "cardioblast differentiation", "id": "GO:0010002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010002", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "autophagic cell death", "id": "GO:0048102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048102", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "larval development", "id": "GO:0002164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002164", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "larval central nervous system remodeling", "id": "GO:0035193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035193", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "regulation of neuron remodeling", "id": "GO:1904799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904799", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "hatching", "id": "GO:0035188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035188", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "compound eye photoreceptor fate commitment", "id": "GO:0001752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001752", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "histoblast morphogenesis", "id": "GO:0007488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007488", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "metamorphosis", "id": "GO:0007552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007552", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "head involution", "id": "GO:0008258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008258", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "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": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "pupariation", "id": "GO:0035073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035073", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "ecdysone receptor signaling pathway", "id": "GO:0035076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035076", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "dorsal vessel heart proper cell fate commitment", "id": "GO:0035053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035053", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "larval wandering behavior", "id": "GO:0035180", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P34021", "url": "https://www.uniprot.org/uniprotkb/P34021" } ], "pmid": "" }, { "name": "transcription 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The nuclei are located in the center of the cell, instead of their normal location at the periphery.", "url": "https://disease-ontology.org/term/DOID:14717", "evidence": [ { "id": "14717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ], "weight": 0.0 }, { "disease_id": "DOID:1827", "name": "generalized epilepsy", "description": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain.", "url": "https://disease-ontology.org/term/DOID:1827", "evidence": [ { "id": "1827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1827" } ], "weight": 0.0 }, { "disease_id": "DOID:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": 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"id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "regulation of synapse structure or activity", "id": "GO:0050803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050803", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "conditioned taste aversion", "id": "GO:0001661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001661", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "synaptic vesicle membrane organization", "id": "GO:0048499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048499", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "olfactory learning", "id": "GO:0008355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008355", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "morphogenesis of a polarized epithelium", "id": "GO:0001738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001738", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "synaptic vesicle recycling", "id": "GO:0036465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036465", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "adherens junction maintenance", "id": "GO:0034334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034334", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "synaptic vesicle budding from presynaptic endocytic zone membrane", "id": "GO:0016185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016185", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "presynaptic dense core vesicle exocytosis", "id": "GO:0099525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099525", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "clathrin-dependent synaptic vesicle endocytosis", "id": "GO:0150007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150007", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "proboscis extension reflex", "id": "GO:0007637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007637", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "regulation of tube architecture, open tracheal system", "id": "GO:0035152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035152", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis involved in vitellogenesis", "id": "GO:0061883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061883", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "mitotic actomyosin contractile ring assembly", "id": "GO:1903475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903475", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "epithelial cell migration, open tracheal system", "id": "GO:0007427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007427", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "larval feeding behavior", "id": "GO:0030536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030536", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "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": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "syncytial blastoderm mitotic cell cycle", "id": "GO:0035186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035186", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "compound eye retinal cell programmed cell death", "id": "GO:0046667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046667", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "bulk synaptic vesicle endocytosis", "id": "GO:0150008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150008", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P27619", "url": "https://www.uniprot.org/uniprotkb/P27619" } ], "pmid": "" }, { "name": "GTP binding", "id": 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"GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "Q02870", "url": "https://www.uniprot.org/uniprotkb/Q02870" } ], "pmid": "" }, { "name": "transcription initiation at RNA polymerase II promoter", "id": "GO:0006367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q02870", "url": "https://www.uniprot.org/uniprotkb/Q02870" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "Q02870", "url": "https://www.uniprot.org/uniprotkb/Q02870" } ], "pmid": "" }, { "name": "RNA polymerase II promoter clearance", "id": "GO:0001111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001111", "evidence": [ { "database": "UniProtKB", "id": "Q02870", "url": "https://www.uniprot.org/uniprotkb/Q02870" } ], "pmid": "" }, { "name": "transcription open complex 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"https://www.alliancegenome.org/disease/DOID:0110119" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2316", "name": "brain ischemia", 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], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "P83099", "url": "https://www.uniprot.org/uniprotkb/P83099" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P83099", "url": "https://www.uniprot.org/uniprotkb/P83099" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P83099", "url": "https://www.uniprot.org/uniprotkb/P83099" } ], "pmid": "" }, { "name": "flight", "id": "GO:0060361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060361", "evidence": [ { "database": "UniProtKB", "id": "P83099", "url": 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neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "regulation of wound healing, spreading of epidermal cells", "id": "GO:1903689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903689", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "cellular response to arsenic-containing substance", "id": "GO:0071243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071243", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity regulating cell shape", "id": "GO:0071963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071963", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "embryonic anterior midgut (ectodermal) morphogenesis", "id": "GO:0048615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048615", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dorsal closure, spreading of leading edge cells", "id": "GO:0007395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007395", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "melanization defense response", "id": "GO:0035006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035006", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "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": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "chorion micropyle formation", "id": "GO:0046844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046844", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "collateral sprouting of injured axon", "id": "GO:0048674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048674", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "regulation of cellular response to phosphate starvation", "id": "GO:0140255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140255", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "regulation of response to wounding", "id": "GO:1903034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903034", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "JUN kinase activity", "id": "GO:0004705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004705", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": 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"pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P92208", "url": "https://www.uniprot.org/uniprotkb/P92208" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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"https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0061062", "name": "immunodeficiency 92", "description": "A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16.", "url": "https://disease-ontology.org/term/DOID:0061062", "evidence": [ { "id": "0061062", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061062" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one 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"url": "https://www.alliancegenome.org/disease/DOID:0111992" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is 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Reduced survival following infection with fungi, and reduced levels of Drs following immune challenge with fungi or bacteria. No down-regulation of the serpin Spn27A in response to bacterial infection. 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], "pmid": "" }, { "name": "phosphopyruvate hydratase complex", "id": "GO:0000015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000015", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" } ], "biological_process": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P15007", "url": "https://www.uniprot.org/uniprotkb/P15007" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24248-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24248", "url": "https://www.uniprot.org/uniprotkb/Q24248" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 717, "chemical_mass": 75422.0, "gene_names": "ara;Ara;CG10571;Dmel\\CG10571;Dmel_CG10571;IRO-C;Iro-C;IroC;Iro;ara;iro-C;iro", "protein_name": "Homeobox protein araucan", "disease": [ { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional 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"https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "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": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "cleavage furrow", "id": "GO:0032154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P48608", "url": "https://www.uniprot.org/uniprotkb/P48608" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q7KU24-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1883, "chemical_mass": 211828.0, "gene_names": "Chd1;2;CG3733;CHD-1;CHD1;Chd1;DmCHD1;Dmel\\CG3733;Dmel_CG3733;chd1;dCHD1;dChd1;l(2)23Cd", "protein_name": "ATP-dependent chromatin remodeler Chd1", "disease": [ { "disease_id": "DOID:0050834", "name": "CHARGE syndrome", "description": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and 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multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0081325", "evidence": [ { "id": "0081325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081325" } ], "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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically 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"https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "sperm DNA decondensation", "id": "GO:0035041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035041", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": 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"name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "polytene chromosome interband", "id": "GO:0005705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005705", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q7KU24", "url": "https://www.uniprot.org/uniprotkb/Q7KU24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7KU24-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": 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"database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q05201-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 766, "chemical_mass": 80657.0, "gene_names": "eya;24582246;BcDNA:LD16029;CG9554;CLIFT;CLI;Clift;Dmel\\CG9554;Dmel_CG9554;EY2-1;EYA;Eya;Eyes absent;cli/eya;cli[eya];cli;dEYA;del1;eay;ey-2;eya", "protein_name": "Protein phosphatase eya", "disease": [ { "disease_id": "DOID:0061209", "name": "branchiootic syndrome 1", "description": "A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.", "url": "https://disease-ontology.org/term/DOID:0061209", "evidence": [ { "id": "0061209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061209" } ], "weight": 0.0 }, { "disease_id": "DOID:0110440", "name": "dilated cardiomyopathy 1J", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2.", "url": "https://disease-ontology.org/term/DOID:0110440", "evidence": [ { "id": "0110440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110440" } ], "weight": 0.0 }, { "disease_id": "DOID:0110542", "name": "autosomal dominant nonsyndromic deafness 10", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.", "url": "https://disease-ontology.org/term/DOID:0110542", "evidence": [ { "id": "0110542", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110542" } ], "weight": 0.0 }, { "disease_id": "DOID:0111423", "name": "branchiootorenal syndrome 1", "description": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3.", "url": "https://disease-ontology.org/term/DOID:0111423", "evidence": [ { "id": "0111423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111423" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14702", "name": "branchiootorenal syndrome", "description": "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.", "url": "https://disease-ontology.org/term/DOID:14702", "evidence": [ { "id": "14702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14702" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "weight": 0.0 }, { "disease_id": "DOID: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:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction.", "url": "https://disease-ontology.org/term/DOID:699", "evidence": [ { "id": "699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:699" } ], "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": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q05201", "url": "https://www.uniprot.org/uniprotkb/Q05201" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P14785" } ], "pmid": "" } ], "molecular_function": [ { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "P14785", "url": "https://www.uniprot.org/uniprotkb/P14785" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P14785-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Met235", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Abolishes binding to Z600; when associated with A-239 and A-242.", "evidence": [ { "database": "UniProtKB", "id": "P14785", "url": "https://www.uniprot.org/uniprotkb/P14785" }, { "database": "PubMed", "id": "17431409", "url": "https://glygen.org/publication/PubMed/17431409" } ] } ] }, { "uniprot_canonical_ac": "P14785-1", "start_pos": "239", "end_pos": "239", "site_lbl": "Leu239", 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{ "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 170, "chemical_mass": 19341.0, "gene_names": "CanB;BcDNA:RH11383;CANB1;CG4209;CNB1;CNB;CaNB;CaN;CanB;Can;CnB;Dmel\\CG4209;Dmel_CG4209;canB-4F;canB;dCnB1", "protein_name": "Calcineurin subunit B type 1", "disease": [ { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" }, { "name": "calcium-dependent protein serine/threonine phosphatase regulator activity", "id": "GO:0008597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008597", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" } ], "cellular_component": [ { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" }, { "name": "calcineurin complex", "id": "GO:0005955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005955", "evidence": [ { "database": "UniProtKB", "id": "P48451", "url": "https://www.uniprot.org/uniprotkb/P48451" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24270-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2669, "chemical_mass": 293753.0, "gene_names": "Ca-alpha1D;A1D;BG:DS02795.1;CAD;CG4894;Ca-Alpha1D;Ca-_1D;Ca-a1D;Ca-alpha1;Ca-alphaID;Ca-alpha[[1]]D;Ca1D;Ca_alpha1D;Caalpha1D;D-type Ca[2+];DmCa1D;DmCa1alpha1;Dmca1D;Dmel\\CG4894;Dmel_CG4894;DroCa1;alpha1D;alpha1;ca-alpha1D;ca-alpha1d;caID;cad;dmca1D;l(2)35Fa;l35Fa", "protein_name": "Voltage-dependent calcium channel type D subunit alpha-1", "disease": [ { "disease_id": "DOID:0050534", "name": "congenital stationary night blindness", "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0050630", "name": "Aland Island eye disease", "description": "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.", "url": "https://disease-ontology.org/term/DOID:0050630", "evidence": [ { "id": "0050630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050630" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060173", "name": "Timothy syndrome", "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.", "url": "https://disease-ontology.org/term/DOID:0060173", "evidence": [ { "id": "0060173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060173" } ], "weight": 0.0 }, { "disease_id": "DOID:0070536", "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "description": "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0070536", "evidence": [ { "id": "0070536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070536" } ], "weight": 0.0 }, { "disease_id": "DOID:0081350", "name": "congenital myopathy 18", "description": "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081350", "evidence": [ { "id": "0081350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081350" } ], "weight": 0.0 }, { "disease_id": "DOID:0110220", "name": "Brugada syndrome 3", "description": "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0110220", "evidence": [ { "id": "0110220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110220" } ], "weight": 0.0 }, { "disease_id": "DOID:0110649", "name": "long QT syndrome 8", "description": "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33.", "url": "https://disease-ontology.org/term/DOID:0110649", "evidence": [ { "id": "0110649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110649" } ], "weight": 0.0 }, { "disease_id": "DOID:0110871", "name": "congenital stationary night blindness 2A", "description": "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0110871", "evidence": [ { "id": "0110871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110871" } ], "weight": 0.0 }, { "disease_id": "DOID:0111007", "name": "X-linked cone-rod dystrophy 3", "description": "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0111007", "evidence": [ { "id": "0111007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111007" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:14452", "name": "hypokalemic periodic paralysis", "description": "", "url": "https://disease-ontology.org/term/DOID:14452", "evidence": [ { "id": "14452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14452" } ], "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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": "https://www.uniprot.org/uniprotkb/Q24270" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q24270", "url": 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"" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell-cell adhesion mediator activity", "id": "GO:0098632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098632", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" }, { "name": "insulin binding", "id": "GO:0043559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043559", "evidence": [ { "database": "UniProtKB", "id": "Q09024", "url": "https://www.uniprot.org/uniprotkb/Q09024" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P55965-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"database": "UniProtKB", "id": "P48423", "url": "https://www.uniprot.org/uniprotkb/P48423" } ], "pmid": "" }, { "name": "negative regulation of R7 cell differentiation", "id": "GO:0045677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045677", "evidence": [ { "database": "UniProtKB", "id": "P48423", "url": "https://www.uniprot.org/uniprotkb/P48423" } ], "pmid": "" }, { "name": "negative regulation of sevenless signaling pathway", "id": "GO:0045873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045873", "evidence": [ { "database": "UniProtKB", "id": "P48423", "url": "https://www.uniprot.org/uniprotkb/P48423" } ], "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": "P48423", "url": "https://www.uniprot.org/uniprotkb/P48423" } ], "pmid": "" }, { "name": "positive regulation of R7 cell differentiation", "id": "GO:0045678", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "COP9 signalosome", "id": "GO:0008180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008180", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "repressor ecdysone receptor complex", "id": "GO:0008231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008231", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "protein deneddylation", "id": "GO:0000338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000338", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" }, { "name": "female germ-line stem cell population maintenance", "id": "GO:0036099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036099", "evidence": [ { "database": "UniProtKB", "id": "Q94899", "url": "https://www.uniprot.org/uniprotkb/Q94899" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q04691-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q04691", "url": "https://www.uniprot.org/uniprotkb/Q04691" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1029, "chemical_mass": 119663.0, "gene_names": "Fbp1;CG17285;DmeFBP1;Dmel\\CG17285;Dmel_CG17285;FBP-1;FBP1;FbP1;Fbp-1;Fbp1;LP07910p;P1;fbp-1;fbp1", "protein_name": "Fat-body protein 1", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q04691", "url": "https://www.uniprot.org/uniprotkb/Q04691" } ], "pmid": "" } ], "biological_process": [ { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q04691", "url": "https://www.uniprot.org/uniprotkb/Q04691" } ], "pmid": "" } ], "molecular_function": [ { "name": "nutrient reservoir activity", "id": "GO:0045735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045735", "evidence": [ { "database": "UniProtKB", "id": "Q04691", "url": "https://www.uniprot.org/uniprotkb/Q04691" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24533-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": 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"GO:0002168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002168", "evidence": [ { "database": "UniProtKB", "id": "Q24533", "url": "https://www.uniprot.org/uniprotkb/Q24533" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q24533", "url": "https://www.uniprot.org/uniprotkb/Q24533" } ], "pmid": "" }, { "name": "neuroblast development", "id": "GO:0014019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014019", "evidence": [ { "database": "UniProtKB", "id": "Q24533", "url": "https://www.uniprot.org/uniprotkb/Q24533" } ], "pmid": "" }, { "name": "intracellular mRNA localization involved in pattern specification process", "id": "GO:0060810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060810", "evidence": [ { "database": "UniProtKB", "id": "Q24533", "url": "https://www.uniprot.org/uniprotkb/Q24533" } ], "pmid": "" }, { "name": "dendrite guidance", "id": 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38839.0, "gene_names": "caz;BcDNA:GM09207;CG3606;Cabeza;Caz;Dmel\\CG3606;Dmel_CG3606;EWSR1;P19;Pen19;SARFH;Sarfh;TFIID;anon-Pen19;cas;caz;dFUS;l(1)5g11;p19;pen19", "protein_name": "RNA-binding protein cabeza", "disease": [ { "disease_id": "DOID:0060198", "name": "amyotrophic lateral sclerosis type 6", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.", "url": "https://disease-ontology.org/term/DOID:0060198", "evidence": [ { "id": "0060198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060198" } ], "weight": 0.0 }, { "disease_id": "DOID:0111431", "name": "essential tremor 4", "description": "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.", "url": "https://disease-ontology.org/term/DOID:0111431", "evidence": [ { "id": "0111431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111431" } ], "weight": 0.0 }, { 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"https://www.uniprot.org/uniprotkb/Q27294" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P20228-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P20228", "url": "https://www.uniprot.org/uniprotkb/P20228" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 510, "chemical_mass": 57819.0, "gene_names": "Gad1;CG14994;DGAD1;DGad1;Dm-GDC;Dmel\\CG14994;Dmel_CG14994;GAD-1;GAD1;GAD[[1]];GAD;Gad1;Gad;Glb;dGad1;dgad1;gad1;gad;l(3)64An;l(3)SH10", "protein_name": "Glutamate decarboxylase", "disease": [ { "disease_id": "DOID:0050669", "name": "spastic cerebral palsy", "description": "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements.", 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"weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": 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"UniProtKB", "id": "P13706", "url": "https://www.uniprot.org/uniprotkb/P13706" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P13706", "url": "https://www.uniprot.org/uniprotkb/P13706" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P13706", "url": "https://www.uniprot.org/uniprotkb/P13706" } ], "pmid": "" }, { "name": "glycerol-3-phosphate dehydrogenase [NAD(P)+] activity", "id": "GO:0047952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047952", "evidence": [ { "database": "UniProtKB", "id": "P13706", "url": "https://www.uniprot.org/uniprotkb/P13706" } ], "pmid": "" }, { "name": "glycerol-3-phosphate dehydrogenase (NAD+) activity", "id": "GO:0141152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141152", "evidence": [ { "database": "UniProtKB", "id": "P13706", "url": "https://www.uniprot.org/uniprotkb/P13706" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P14484-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20633.0, "gene_names": "Pcp;CG3440;DMCPGART;DmelPcp;Dmel\\CG3440;Gart;PCP-Gart;Pcpgart;Pcp", "protein_name": "Pupal cuticle protein", "disease": [], "molecular_function": [ { "name": "structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "pmid": "" }, { "name": "structural constituent of pupal chitin-based cuticle", "id": "GO:0008011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008011", "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "pmid": "" } ], "biological_process": [ { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "pmid": "" }, { "name": "imaginal disc fusion, thorax closure", "id": "GO:0046529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046529", "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "pmid": "" } ], "cellular_component": [ { "name": "chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "P14484", "url": "https://www.uniprot.org/uniprotkb/P14484" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P15425-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 237, "chemical_mass": 26351.0, "gene_names": "ninaA;CG3966;Dmel\\CG3966;NINAA;NinaA;ninA;ninaA", "protein_name": "Peptidyl-prolyl cis-trans isomerase, rhodopsin-specific isozyme", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" } ], "biological_process": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "N-glycan processing", "id": "GO:0006491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006491", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "'de novo' protein folding", "id": "GO:0006458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006458", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "rhodopsin biosynthetic process", "id": "GO:0016063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016063", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" } ], "molecular_function": [ { "name": "cyclosporin A binding", "id": "GO:0016018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016018", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" }, { "name": "peptidyl-prolyl cis-trans isomerase activity", "id": "GO:0003755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003755", "evidence": [ { "database": "UniProtKB", "id": "P15425", "url": "https://www.uniprot.org/uniprotkb/P15425" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P15425-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Asn68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 68, "start_aa": "Asn", "end_pos": 68, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn68", "evidence": [ { "id": "P15425", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P15425#ptm_processing" }, { "id": "1707759", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/1707759" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P16395-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P16395", "url": "https://www.uniprot.org/uniprotkb/P16395" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 805, "chemical_mass": 86623.0, "gene_names": "mAChR-A;Acr60C;AcrC;CG4356;DM1;Dm-mAChR-A;Dm1;Dmel\\CG4356;mAChR A;mAChR-1;mAChR-A1;mAChR-A;mAChR;mAcR-60C;mAcR60C;mAcR;mAchR", "protein_name": "Muscarinic acetylcholine receptor DM1", "disease": [ { "disease_id": "DOID:0050214", "name": "Lambert-Eaton myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.", "url": "https://disease-ontology.org/term/DOID:0050214", "evidence": [ { "id": "0050214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050214" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060610", "name": "megacystis-microcolon-intestinal hypoperistalsis syndrome", "description": "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.", "url": "https://disease-ontology.org/term/DOID:0060610", "evidence": [ { "id": "0060610", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060610" } ], "weight": 0.0 }, { "disease_id": "DOID:0060889", "name": "prune belly syndrome", "description": "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.", "url": "https://disease-ontology.org/term/DOID:0060889", "evidence": [ { "id": "0060889", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060889" } ], "weight": 0.0 }, { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:365", "name": "bladder disease", "description": "A urinary system disease that is located_in the bladder.", "url": "https://disease-ontology.org/term/DOID:365", "evidence": [ { "id": "365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:365" } ], "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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": 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"DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "major mitochondrial derivative", "id": "GO:0016008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016008", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "catalase activity", "id": "GO:0004096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004096", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "paracrine signaling", "id": "GO:0038001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038001", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "P17336", "url": "https://www.uniprot.org/uniprotkb/P17336" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P17644-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 576, "chemical_mass": 65506.0, "gene_names": "nAChRalpha2;Acr96Ab;AcrE;CG6844-PA;CG6844;D[a2];Da2;Dalpha2/SAD;Dalpha2;Dalpha;Dmalpha2;Dmel\\CG6844;SAD;alpha2;alpha[[2]];da2;nAChR Dalpha2;nAChR-alpha96Ab;nAChRa2;nAChRalpha-96A;nAChRalpha2;nAChR;nAcRalpha-96Ab;nAcRs;nAchRalpha-96Ab;nAcr96Ab;sad", "protein_name": "Acetylcholine receptor subunit alpha-like 2", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060682", "name": "autosomal dominant nocturnal frontal lobe epilepsy 1", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0060682", "evidence": [ { "id": "0060682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060682" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).", "url": "https://disease-ontology.org/term/DOID:3635", "evidence": [ { "id": "3635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3635" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "P17644", "url": "https://www.uniprot.org/uniprotkb/P17644" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17644-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asn254", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", 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"https://www.uniprot.org/uniprotkb/P17644#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17644-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Asn65", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 65, "start_aa": "Asn", "end_pos": 65, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn65", "evidence": [ { "id": "P17644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17644#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P17719-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17719", "url": "https://www.uniprot.org/uniprotkb/P17719" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 182, "chemical_mass": 20775.0, "gene_names": "Dhfr;CG14887;DHFR;Dhfr;Dmel\\CG14887;dhfr", "protein_name": "Dihydrofolate reductase", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ 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"mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P17719", "url": "https://www.uniprot.org/uniprotkb/P17719" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P17886-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 702, "chemical_mass": 84262.0, "gene_names": "crn;62D9.a;CG18842;CG3193;Crn;Dmel\\CG3193;EG:30B8.1;N10;N5;RC63;crn;l(1)2Fa;l(1)2;l(1)CRN;l(1)N7;l(1)crn;l30;yok", "protein_name": "Protein crooked neck", "disease": [ { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008366", "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "pmid": "" }, { "name": "oenocyte development", "id": "GO:0007438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007438", "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P17886", "url": "https://www.uniprot.org/uniprotkb/P17886" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P18091-3", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P18091", "url": "https://www.uniprot.org/uniprotkb/P18091" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 917, "chemical_mass": 106373.0, "gene_names": "Actn;ACTN;Actn;CG4376;CT14163;CT14232;Dmel\\CG4376;EG:133E12.1;GA17;HM-29;actn;alpha-actinin;alphaActn;fliA;l(1)2Cb;l(1)EA82;y", "protein_name": "Alpha-actinin, sarcomeric", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by 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"database": "UniProtKB", "id": "P18091", "url": "https://www.uniprot.org/uniprotkb/P18091" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P18106-4", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P18106", "url": "https://www.uniprot.org/uniprotkb/P18106" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1325, "chemical_mass": 150263.0, "gene_names": "FER;CG8874;DFER;DFer;Dfer;Dfps;Dm FPS;DmHD-179;Dmel\\CG8874;FER;FPS;Fer;FpS95D;Fps85D;HD-179;dFer;dfer;dfps 85D;dfps85D;dfps;fer;fps85D;fps", "protein_name": "Tyrosine-protein kinase Fer", "disease": [ { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": 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"https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "determination of ventral identity", "id": "GO:0048264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048264", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "antennal development", "id": "GO:0007469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007469", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "proboscis development", "id": "GO:0048728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048728", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "leg disc proximal/distal pattern formation", "id": "GO:0007479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007479", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "imaginal disc-derived leg morphogenesis", "id": "GO:0007480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007480", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia development", "id": "GO:0007485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007485", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "analia development", "id": "GO:0007487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007487", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "imaginal disc-derived wing margin morphogenesis", "id": "GO:0008587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008587", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" }, { "name": "imaginal disc-derived appendage morphogenesis", "id": "GO:0035114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035114", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "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": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "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": "P20009", "url": "https://www.uniprot.org/uniprotkb/P20009" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20009-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Thr238", "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": 238, "start_aa": "Thr", "end_pos": 238, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr238", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "P20009-1", "start_pos": "23", "end_pos": "23", "site_lbl": 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"janA;BcDNA:AT12574;CG7933;Dmel\\CG7933;Jan;Y;jan A;janA;janus;jan", "protein_name": "Sex-regulated protein janus-A", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P20348", "url": "https://www.uniprot.org/uniprotkb/P20348" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P20348", "url": "https://www.uniprot.org/uniprotkb/P20348" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "P20348", "url": "https://www.uniprot.org/uniprotkb/P20348" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein histidine phosphatase activity", "id": "GO:0101006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101006", "evidence": [ { "database": "UniProtKB", "id": "P20348", "url": "https://www.uniprot.org/uniprotkb/P20348" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P20439-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P20439", "url": "https://www.uniprot.org/uniprotkb/P20439" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 530, "chemical_mass": 59256.0, "gene_names": "CycB;2g;3510;CG3510;CYC-B;CYCB;CYCLIN B;Cyc B;CycB;Cycb;Cyclin B1;DmcycB;Dmel\\CG3510;chr2R:18312808..18312907;cyc B;cyc-B;cycB;cycb;cyclin B;cyclinB1;cyclinB;mAbF2F4", "protein_name": "G2/mitotic-specific cyclin-B", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is 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"database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "septate junction assembly", "id": "GO:0019991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019991", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "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": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "gravitaxis", "id": "GO:0042332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042332", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "negative regulation of imaginal disc growth", "id": "GO:0045571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045571", "evidence": [ { "database": 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"GO:0030714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030714", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell fate commitment involved in pattern specification", "id": "GO:0060581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060581", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" } ], "cellular_component": [ { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "leading edge membrane", "id": "GO:0031256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031256", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "tricellular tight junction", "id": "GO:0061689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061689", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "apicolateral plasma membrane", "id": "GO:0016327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016327", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "septate junction", "id": "GO:0005918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005918", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "smooth septate junction", "id": "GO:0005920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005920", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "type I terminal bouton", "id": "GO:0061174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061174", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "type Ib terminal bouton", "id": "GO:0061176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061176", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" }, { "name": "subsynaptic reticulum", "id": "GO:0071212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071212", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P31007-2", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P31007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31007" } ] } ] }, { "uniprot_canonical_ac": "P31007-2", "start_pos": "714", "end_pos": "714", "site_lbl": "Thr714", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P31007", "url": "https://www.uniprot.org/uniprotkb/P31007" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "P31007", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P31007" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P32027-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 508, "chemical_mass": 54517.0, "gene_names": "croc;CG5069;Croc;Dm-FoxC;Dmel\\CG5069;Dmfd1;FD1;FD78E;FoxC;croc;fd1;fd78E", "protein_name": "Fork head domain-containing protein crocodile", "disease": [ { "disease_id": "DOID:0060260", "name": "ptosis", "description": "An eye disease characterized by the drooping or falling of the upper or lower eyelid.", "url": "https://disease-ontology.org/term/DOID:0060260", "evidence": [ { "id": "0060260", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060260" } ], "weight": 0.0 }, { "disease_id": "DOID:0080608", "name": "anterior segment dysgenesis 3", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0080608", "evidence": [ { "id": "0080608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080608" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:0111509", "name": "lymphedema-distichiasis syndrome", "description": "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1.", "url": "https://disease-ontology.org/term/DOID:0111509", "evidence": [ { "id": "0111509", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111509" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:14686", "name": "Axenfeld-Rieger syndrome", "description": "An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.", "url": "https://disease-ontology.org/term/DOID:14686", "evidence": [ { "id": "14686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14686" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:4977", "name": "lymphedema", "description": "A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.", "url": "https://disease-ontology.org/term/DOID:4977", "evidence": [ { "id": "4977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4977" } ], "weight": 0.0 }, { "disease_id": "DOID:530", "name": "eyelid disease", "description": "An adnexa disease that is located_in the eyelid.", "url": "https://disease-ontology.org/term/DOID:530", "evidence": [ { "id": "530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:530" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "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": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "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": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "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": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" }, { "name": "specification of segmental identity, head", "id": "GO:0007380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007380", "evidence": [ { "database": "UniProtKB", "id": "P32027", "url": "https://www.uniprot.org/uniprotkb/P32027" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P32029-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 31013.0, "gene_names": "fd96Cb;CG11922;Dm-FoxB2;Dmel\\CG11922;Dmfd5;FD5;FoxB;fd5;fd96Cb", "protein_name": "Fork head domain-containing protein FD5", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "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": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "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": "P32029", "url": "https://www.uniprot.org/uniprotkb/P32029" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P32234-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P32234", "url": "https://www.uniprot.org/uniprotkb/P32234" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 368, "chemical_mass": 41132.0, "gene_names": "128up;128up;CG8340;Dmel\\CG8340;GBP;GTP-bp;Gtp-bp;X71866", "protein_name": "Guanylate binding protein 128up", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P32234", "url": "https://www.uniprot.org/uniprotkb/P32234" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P32234", "url": "https://www.uniprot.org/uniprotkb/P32234" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P32234", "url": "https://www.uniprot.org/uniprotkb/P32234" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P32234", "url": "https://www.uniprot.org/uniprotkb/P32234" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P33450-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P33450", "url": "https://www.uniprot.org/uniprotkb/P33450" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 5147, "chemical_mass": 564791.0, "gene_names": "ft;79/18;CG3352;CT11259;Dm Fat;Dmel\\CG3352;FT;Fat;Ft;ft;l(2)24Da;l(2)79/18;l(2)fat;l(2)fd;l(2)ft;l(2)gd-1;l(2)gd-l;l(2)gd2;l(2)k07918", "protein_name": "Cadherin-related tumor suppressor", "disease": [ { "disease_id": "DOID:0060366", "name": "Hennekam syndrome", "description": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. 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"url": "https://www.uniprot.org/uniprotkb/P38040" } ], "pmid": "" } ], "molecular_function": [ { "name": "G-protein beta-subunit binding", "id": "GO:0031681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031681", "evidence": [ { "database": "UniProtKB", "id": "P38040", "url": "https://www.uniprot.org/uniprotkb/P38040" } ], "pmid": "" } ], "cellular_component": [ { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P38040", "url": "https://www.uniprot.org/uniprotkb/P38040" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P40794-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 303, "chemical_mass": 33566.0, "gene_names": "bnk;Bnk;CG1480;Dmel\\CG1480;bnk", "protein_name": "Protein bottleneck", "disease": [], "biological_process": [ { "name": "actin filament bundle organization", "id": "GO:0061572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061572", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": 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"name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P40794", "url": "https://www.uniprot.org/uniprotkb/P40794" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P40807-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P40807", "url": "https://www.uniprot.org/uniprotkb/P40807" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 394, "chemical_mass": 44195.0, "gene_names": 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dehydrogenase (decarboxylating) activity", "id": "GO:0004616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004616", "evidence": [ { "database": "UniProtKB", "id": "P41572", "url": "https://www.uniprot.org/uniprotkb/P41572" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P41572", "url": "https://www.uniprot.org/uniprotkb/P41572" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P42281-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P42281", "url": "https://www.uniprot.org/uniprotkb/P42281" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 86, "chemical_mass": 9557.0, "gene_names": 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vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" }, { "name": "intra-Golgi vesicle-mediated transport", "id": "GO:0006891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006891", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P45437", "url": "https://www.uniprot.org/uniprotkb/P45437" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P45437-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Thr71", "weight": 0.0, "glycosylation": [ { 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} ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P45884", "url": "https://www.uniprot.org/uniprotkb/P45884" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P45884", "url": "https://www.uniprot.org/uniprotkb/P45884" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P45884", "url": "https://www.uniprot.org/uniprotkb/P45884" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P45884", "url": "https://www.uniprot.org/uniprotkb/P45884" } ], "pmid": "" }, { "name": "defense response to insect", "id": "GO:0002213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002213", "evidence": [ { "database": "UniProtKB", "id": "P45884", "url": "https://www.uniprot.org/uniprotkb/P45884" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P45888-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P45888", "url": "https://www.uniprot.org/uniprotkb/P45888" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 399, "chemical_mass": 45282.0, "gene_names": "Arp2;ARP14D;ARP2;Actr14D;Arp14D;Arp14d;Arp2;CG9901;Dmel\\CG9901;arp2", "protein_name": "Actin-related protein 2", "disease": [ { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and 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"GO:0072553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072553", "evidence": [ { "database": "UniProtKB", "id": "P45888", "url": "https://www.uniprot.org/uniprotkb/P45888" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P45888", "url": "https://www.uniprot.org/uniprotkb/P45888" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "P45888", "url": "https://www.uniprot.org/uniprotkb/P45888" } ], "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": "P45888", "url": "https://www.uniprot.org/uniprotkb/P45888" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": 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"Arp1;ARP1;ARP87C;Actr87C;Arp-1;Arp1;Arp87C;Arp87c;Arp;CG6174;Dmel\\CG6174;arp-1;arp1;gdl;grid", "protein_name": "Actin-related protein 1", "disease": [ { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": 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"https://www.oglcnac.mcw.edu/search/?query_protein=P45889" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P45891-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 42030.0, "gene_names": "Arp53D;ARP53D;Actr53D;Arp53D;ArpG;Arp_G;CG5409;Dmel\\CG5409;arp53D;arp5", "protein_name": "Actin-like protein 53D", "disease": [ { "disease_id": "DOID:0070585", "name": "spermatogenic failure 86", "description": "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3.", "url": "https://disease-ontology.org/term/DOID:0070585", "evidence": [ { "id": "0070585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070585" } ], "weight": 0.0 }, { "disease_id": "DOID:0080685", "name": "aortic dissection", "description": "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.", "url": "https://disease-ontology.org/term/DOID:0080685", "evidence": [ { "id": "0080685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080685" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081339", "name": "congenital myopathy 2B", "description": "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0081339", "evidence": [ { "id": "0081339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081339" } ], "weight": 0.0 }, { "disease_id": "DOID:0081340", "name": "congenital myopathy 2C", "description": "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).", "url": "https://disease-ontology.org/term/DOID:0081340", "evidence": [ { "id": "0081340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081340" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:0110927", "name": "nemaline myopathy 3", "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.", "url": "https://disease-ontology.org/term/DOID:0110927", "evidence": [ { "id": "0110927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110927" } ], "weight": 0.0 }, { "disease_id": "DOID:0112279", "name": "spermatogenic failure 53", "description": "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0112279", "evidence": [ { "id": "0112279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112279" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "fusome", "id": "GO:0045169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "P45891", "url": "https://www.uniprot.org/uniprotkb/P45891" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P46415-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 379, "chemical_mass": 40389.0, "gene_names": "Fdh;ADHX_DROME;ADHX;CG6598;Dmel\\CG6598;Fdh;GSNOR;ODH;Odh;fdh;gfd/odh;gfd;odh", "protein_name": "Alcohol dehydrogenase class-3", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "weight": 0.0 }, { "disease_id": "DOID:0080952", "name": "AMED syndrome", "description": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.", "url": "https://disease-ontology.org/term/DOID:0080952", "evidence": [ { "id": "0080952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080952" } ], "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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "alcohol dehydrogenase (NAD+) activity", "id": "GO:0004022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004022", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase [NAD(P)+] activity", "id": "GO:0051903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051903", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "octanol dehydrogenase (NAD+) activity", "id": "GO:0004552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004552", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-nitrosoglutathione reductase (NADH) activity", "id": "GO:0080007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080007", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NADP+) activity", "id": "GO:0106321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106321", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "S-(hydroxymethyl)glutathione dehydrogenase (NAD+) activity", "id": "GO:0106322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106322", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" } ], "biological_process": [ { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "formaldehyde catabolic process", "id": "GO:0046294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046294", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "alcohol metabolic process", "id": "GO:0006066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006066", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" }, { "name": "regulation of nitric oxide metabolic process", "id": "GO:0080164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080164", "evidence": [ { "database": "UniProtKB", "id": "P46415", "url": "https://www.uniprot.org/uniprotkb/P46415" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P46863-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1066, "chemical_mass": 121163.0, "gene_names": "Klp61F;6345;CG9191-PA;CG9191;DmKLP61F;DmKRP130;DmKlp61F;Dmel\\CG9191;KIF 8;KIF11;KLP2;KLP61F;KLP61f;KLP61;KRP130;KRP[[(130)]];KRP[[130]];Kin-5;Kin5;Klp 61F;Klp2;Klp61F/KRP130;Klp61F;Klp61f;Krp130;klp61F;klp61f;l(3)07012;l(3)6D283;l(3)Klp61F;urcn;urc", "protein_name": "Kinesin-like protein Klp61F", "disease": [ { "disease_id": "DOID:0060349", "name": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "description": "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.", "url": "https://disease-ontology.org/term/DOID:0060349", "evidence": [ { "id": "0060349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060349" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "positive regulation of Golgi to plasma membrane protein transport", "id": "GO:0042998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042998", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "mitotic centrosome separation", "id": "GO:0007100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007100", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "centrosome separation", "id": "GO:0051299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051299", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "fusome organization", "id": "GO:0045478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045478", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "spindle elongation", "id": "GO:0051231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051231", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "plus-end directed microtubule sliding", "id": "GO:0031535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031535", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" } ], "pmid": "" }, { "name": "plus-end-directed microtubule motor activity", "id": "GO:0008574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008574", "evidence": [ { "database": "UniProtKB", "id": "P46863", "url": "https://www.uniprot.org/uniprotkb/P46863" 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syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0080760", "evidence": [ { "id": "0080760", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080760" } ], "weight": 0.0 }, { "disease_id": "DOID:0111099", "name": "maturity-onset diabetes of the young type 1", "description": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.", "url": "https://disease-ontology.org/term/DOID:0111099", "evidence": [ { "id": "0111099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111099" } ], "weight": 0.0 }, { "disease_id": "DOID:1062", "name": "Fanconi syndrome", "description": "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.", "url": "https://disease-ontology.org/term/DOID:1062", "evidence": [ { "id": 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"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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid oxidation", "id": "GO:0034440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034440", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "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": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "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": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P49866", "url": "https://www.uniprot.org/uniprotkb/P49866" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P52029-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 558, "chemical_mass": 62339.0, "gene_names": "Pgi;CG8251;DmG6PI;Dmel\\CG8251;GPI;Gpi;PGI;Pgi;gpi;pgi", "protein_name": "Glucose-6-phosphate isomerase", "disease": [ { "disease_id": "DOID:0051005", "name": "congenital nonspherocytic hemolytic anemia 4", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0051005", "evidence": [ { "id": "0051005", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051005" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "weight": 0.0 }, { "disease_id": "DOID:440", "name": "neuromuscular disease", "description": "A neuropathy that affect the nerves that control the voluntary muscles.", "url": "https://disease-ontology.org/term/DOID:440", "evidence": [ { "id": "440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:440" } ], "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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" } ], "biological_process": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "canonical glycolysis", "id": "GO:0061621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061621", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucose-6-phosphate isomerase activity", "id": "GO:0004347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004347", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "carbohydrate derivative binding", "id": "GO:0097367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097367", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" }, { "name": "monosaccharide binding", "id": "GO:0048029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048029", "evidence": [ { "database": "UniProtKB", "id": "P52029", "url": "https://www.uniprot.org/uniprotkb/P52029" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "P53501-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P53501", "url": "https://www.uniprot.org/uniprotkb/P53501" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 41835.0, "gene_names": "Act57B;ACT3;Act57A;Act57B;Act57b;Act57;Actin-57B;Actin;ArpE;BEST:RE38067;CG10067;CG30294;C;Dmel\\CG10067;M;T10;act 57A;act57A;act57B;act57b;actin-57B;actin;anon-EST:CL2c12;chr2R:16452771..16452966", "protein_name": "Actin-57B", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P53501", "url": "https://www.uniprot.org/uniprotkb/P53501" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "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": "P91931", "url": "https://www.uniprot.org/uniprotkb/P91931" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "P91931", "url": "https://www.uniprot.org/uniprotkb/P91931" } ], "pmid": "" }, { "name": "spermine biosynthetic process", "id": "GO:0006597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006597", "evidence": [ { "database": "UniProtKB", "id": "P91931", "url": "https://www.uniprot.org/uniprotkb/P91931" } ], "pmid": "" }, { "name": "spermidine biosynthetic process", "id": "GO:0008295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008295", "evidence": [ { "database": "UniProtKB", "id": "P91931", "url": 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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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "ventral midline development", "id": "GO:0007418", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048066", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "mucosal immune response", "id": "GO:0002385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002385", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "negative regulation of homotypic cell-cell adhesion", "id": "GO:0034111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034111", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "intein-mediated protein splicing", "id": "GO:0016539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016539", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "Bolwig's organ morphogenesis", "id": "GO:0001746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001746", "evidence": [ { "database": 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"database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "wing disc proximal/distal pattern formation", "id": "GO:0007473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007473", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "leg disc morphogenesis", "id": "GO:0007478", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "labial disc development", "id": "GO:0035217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035217", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "wing disc pattern formation", "id": "GO:0035222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035222", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "genital disc anterior/posterior pattern formation", "id": "GO:0035224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035224", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "cytoneme assembly", "id": "GO:0035231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035231", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "germ cell attraction", "id": "GO:0035232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035232", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "spiracle morphogenesis, open tracheal system", "id": "GO:0035277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035277", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "anterior head segmentation", "id": "GO:0035288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035288", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "posterior head segmentation", "id": "GO:0035289", "url": 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tracheal system", "id": "GO:2000274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000274", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "regulation of cell proliferation involved in compound eye morphogenesis", "id": "GO:2000495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000495", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q02936", "url": "https://www.uniprot.org/uniprotkb/Q02936" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": 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"cellular_component": [ { "name": "guanylate cyclase complex, soluble", "id": "GO:0008074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008074", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "G protein-coupled opsin signaling pathway", "id": "GO:0016056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016056", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" }, { "name": "positive phototaxis", "id": "GO:0046956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046956", "evidence": [ { "database": "UniProtKB", "id": "Q07093", "url": "https://www.uniprot.org/uniprotkb/Q07093" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q07407-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 729, "chemical_mass": 82586.0, "gene_names": "htl;CG7223;CT22273;CT39172;DFGF-R1;DFGF-R2;DFR-1;DFR1/DFGF-R2;DFR1;DPR3;DTRK(FR1);Dfr-1;Dfr1;DmHD-38;Dmel\\CG7223;Dtk1;EMS2;FGF-R2;FGFR2;FGFR;FR1;Fr1;HD-38;HTL/FGFR1;Htl;Tk1;dtk1;htl;i100;i150;i79;j372", "protein_name": "Fibroblast growth factor receptor homolog 1", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "weight": 0.0 }, { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "weight": 0.0 }, { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "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:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "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:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "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:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 }, { "disease_id": "DOID:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "somatic muscle development", "id": "GO:0007525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007525", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "glial cell development", "id": "GO:0021782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021782", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "mesodermal cell fate commitment", "id": "GO:0001710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001710", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "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": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "Q07407", "url": "https://www.uniprot.org/uniprotkb/Q07407" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { 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"disease_id": "DOID:0080447", "name": "developmental and epileptic encephalopathy 43", "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.", "url": "https://disease-ontology.org/term/DOID:0080447", "evidence": [ { "id": "0080447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080447" } ], "weight": 0.0 }, { "disease_id": "DOID:0080471", "name": "developmental and epileptic encephalopathy 92", "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.", "url": "https://disease-ontology.org/term/DOID:0080471", "evidence": [ { "id": "0080471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080471" } ], "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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1825", "name": "childhood absence epilepsy", "description": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.", "url": "https://disease-ontology.org/term/DOID:1825", "evidence": [ { "id": "1825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1825" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" }, { "name": "GABA-A receptor complex", "id": "GO:1902711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902711", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" } ], "biological_process": [ { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" }, { "name": "synaptic transmission, GABAergic", "id": "GO:0051932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051932", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" } ], "molecular_function": [ { "name": "GABA-A receptor activity", "id": "GO:0004890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004890", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" }, { "name": "GABA-gated chloride ion channel activity", "id": "GO:0022851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022851", "evidence": [ { "database": "UniProtKB", "id": "Q08832", "url": "https://www.uniprot.org/uniprotkb/Q08832" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q08832-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asn189", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 189, "start_aa": "Asn", "end_pos": 189, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn189", "evidence": [ { "id": "Q08832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08832#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q08832-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Asn39", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "Q08832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q08832#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q09147-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q09147", "url": "https://www.uniprot.org/uniprotkb/Q09147" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1052, "chemical_mass": 117813.0, "gene_names": "btl;0844/01;BTL/FGFR2;BTL;Btl;CG32134;CG6714;CT20816;D-FGFR;DFGF-R1;DFR2;Dfr-2;DmHD-311;Dmel\\CG32134;Dtk2;FGFR1;FGFR;FR2;Fgf-r;Fgfr;HD-311;Tk2;btl;dFGFR;dev;dtk2;fgf-r;l(3)00208;l(3)j2E11", "protein_name": "Fibroblast growth factor receptor homolog 2", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0050660", "name": "Beare-Stevenson cutis gyrata syndrome", "description": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0050660", "evidence": [ { "id": "0050660", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050660" } ], "weight": 0.0 }, { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "weight": 0.0 }, { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060597", "name": "atypical chronic myeloid leukemia, BCR-ABL1 negative", "description": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.", "url": "https://disease-ontology.org/term/DOID:0060597", "evidence": [ { "id": "0060597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060597" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0060992", "name": "bent bone dysplasia syndrome 1", "description": "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0060992", "evidence": [ { "id": "0060992", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060992" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081289", "name": "Antley-Bixler syndrome", "description": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.", "url": "https://disease-ontology.org/term/DOID:0081289", "evidence": [ { "id": "0081289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081289" } ], "weight": 0.0 }, { "disease_id": "DOID:0081290", "name": "Antley-Bixler syndrome without disordered steroidogenesis", "description": "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.", "url": "https://disease-ontology.org/term/DOID:0081290", "evidence": [ { "id": "0081290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081290" } ], "weight": 0.0 }, { "disease_id": "DOID:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0090078", "name": "hypogonadotropic hypogonadism 7 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.", "url": "https://disease-ontology.org/term/DOID:0090078", "evidence": [ { "id": "0090078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090078" } ], "weight": 0.0 }, { "disease_id": "DOID:0090083", "name": "hypogonadotropic hypogonadism 2 with or without anosmia", "description": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.", "url": "https://disease-ontology.org/term/DOID:0090083", "evidence": [ { "id": "0090083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090083" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:0111337", "name": "Jackson-Weiss syndrome", "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13.", "url": "https://disease-ontology.org/term/DOID:0111337", "evidence": [ { "id": "0111337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111337" } ], "weight": 0.0 }, { "disease_id": "DOID:0111532", "name": "osteoglophonic dysplasia", "description": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.", "url": "https://disease-ontology.org/term/DOID:0111532", "evidence": [ { "id": "0111532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111532" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:14705", "name": "Pfeiffer syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14705", "evidence": [ { "id": "14705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14705" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2339", "name": "Crouzon syndrome", "description": "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:2339", "evidence": [ { "id": "2339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2339" } ], "weight": 0.0 }, { "disease_id": "DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "weight": 0.0 }, { "disease_id": "DOID:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "weight": 0.0 }, { "disease_id": "DOID:4441", "name": "dysgerminoma", "description": "A germ cell cancer that derives_from cells that give rise to egg cells.", "url": "https://disease-ontology.org/term/DOID:4441", "evidence": [ { "id": "4441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4441" } ], "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:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5015", "name": "fibrolamellar carcinoma", "description": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7843", "name": "female breast carcinoma", "description": "A breast carcinoma that is manifested in the female breast.", "url": "https://disease-ontology.org/term/DOID:7843", "evidence": [ { "id": "7843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7843" } ], "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:8445", "name": "intestinal volvulus", "description": "An intestinal obstruction characterized by abnormal rotation of the intestines.", "url": "https://disease-ontology.org/term/DOID:8445", "evidence": [ { "id": "8445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8445" } ], "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:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 }, { "disease_id": "DOID:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", 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"molecular_function": [ { "name": "ATPase activator activity", "id": "GO:0001671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001671", "evidence": [ { "database": "UniProtKB", "id": "Q24046", "url": "https://www.uniprot.org/uniprotkb/Q24046" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24046-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "Q24046", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q24046#ptm_processing" }, { "id": "17893096", "database": "PubMed", "url": 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"record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24090-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24090", "url": "https://www.uniprot.org/uniprotkb/Q24090" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 370, "chemical_mass": 41911.0, "gene_names": "Snr1;BAP45;CG1064;Dmel\\CG1064;Dmel_CG1064;SNR1;Snr-1;Snr1/BAP45;Snr1;Snr;l(3)01319;snr-1;snr1;snr", "protein_name": "", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0070045", "name": "Coffin-Siris syndrome 3", "description": "A 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22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. 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"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:5485", "name": "synovial sarcoma", "description": "A synovium cancer which develops in the synovial membrane of the joints.", "url": "https://disease-ontology.org/term/DOID:5485", "evidence": [ { "id": "5485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5485" } ], "weight": 0.0 }, { "disease_id": "DOID:6193", "name": "epithelioid sarcoma", "description": "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue.", "url": "https://disease-ontology.org/term/DOID:6193", "evidence": [ { "id": "6193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6193" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", 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transport", "id": "GO:0008088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008088", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "spindle organization", "id": "GO:0007051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007051", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "transport along microtubule", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001754", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "Q24246", "url": "https://www.uniprot.org/uniprotkb/Q24246" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24247-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1146, "chemical_mass": 127973.0, "gene_names": "mew;CG1771;CT5254;Dmel\\CG1771;Dmel_CG1771;Integrin alpha PS1;ItgaPS1;Mew;PS1alpha;PS1;PSalpha1;aPS1;alpha integrin;alpha-PS1;alpha1Int;alphaPS1;alpha[[PS1]];l(1)G0429;l(1)G0443;mew", "protein_name": "Integrin alpha-PS1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0060733", "name": "junctional epidermolysis bullosa with pyloric atresia", "description": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.", "url": "https://disease-ontology.org/term/DOID:0060733", "evidence": [ { "id": "0060733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060733" } ], "weight": 0.0 }, { "disease_id": "DOID:0060737", "name": "junctional epidermolysis bullosa Herlitz type", "description": "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060737", "evidence": [ { "id": "0060737", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060737" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:0110639", "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110639", "evidence": [ { "id": "0110639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110639" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "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": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "axonal defasciculation", "id": "GO:0007414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007414", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "salivary gland boundary specification", "id": "GO:0007432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007432", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "apposition of dorsal and ventral imaginal disc-derived wing surfaces", "id": "GO:0007475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007475", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "maintenance of epithelial integrity, open tracheal system", "id": "GO:0035160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035160", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "ectodermal digestive tract morphogenesis", "id": "GO:0048567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048567", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "somatic muscle attachment to chitin-based cuticle", "id": "GO:0160175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160175", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q24247", "url": "https://www.uniprot.org/uniprotkb/Q24247" } ], "pmid": "" 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"" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "positive regulation of biosynthetic process of antibacterial peptides active against Gram-negative bacteria", "id": "GO:0006964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006964", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "chaeta development", "id": "GO:0022416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022416", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" }, { "name": "peptidoglycan recognition protein signaling pathway", "id": "GO:0061057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061057", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24307-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Asp100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of caspase-mediated cleavage, failure to protect against Drice-mediated cell death and loss of binding to Drice.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Cys149", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "No effect on binding to Drice or Dredd.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asp163", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on binding to Drice. Loss of immunity to Gram-negative bacteria; when associated with A-263.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Cys249", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Abolishes binding to Drice and fails to inhibit cell death. No effect on binding to Dredd.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Asp263", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolishes binding to Drice. Loss of immunity to Gram-negative bacteria; when associated with A-163.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Cys466", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Fails to bind to Dredd and promote its polyubiquitylation.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "22549468", "url": "https://glygen.org/publication/PubMed/22549468" } ] } ] }, { "uniprot_canonical_ac": "Q24307-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asp92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on caspase-mediated cleavage.", "evidence": [ { "database": "UniProtKB", "id": "Q24307", "url": "https://www.uniprot.org/uniprotkb/Q24307" }, { "database": "PubMed", "id": "18166655", "url": "https://glygen.org/publication/PubMed/18166655" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24311-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 774, "chemical_mass": 89511.0, "gene_names": "Cul1;CG1877;CUL1;Cul-1;Cul1;Cullin-1;Cullin1;Dmel\\CG1877;Lin-19;Lin19;Q9V312;cul-1;cul1;dCUL1;dCul-1;dCul1;dmCUL1;l(2)02074;l(2)k01207;lin 19;lin-19/cul-1;lin19-like;lin19", "protein_name": "Cullin homolog 1", "disease": [], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "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": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "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": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "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": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of antimicrobial peptide production", "id": "GO:0002785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002785", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "negative regulation of peptidoglycan recognition protein signaling pathway", "id": "GO:0061060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061060", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "positive regulation of synaptonemal complex assembly", "id": "GO:1905088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905088", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "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": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" }, { "name": "ubiquitin ligase complex scaffold activity", "id": "GO:0160072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160072", "evidence": [ { "database": "UniProtKB", "id": "Q24311", "url": "https://www.uniprot.org/uniprotkb/Q24311" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q24324-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24324", "url": "https://www.uniprot.org/uniprotkb/Q24324" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 396, "chemical_mass": 43870.0, "gene_names": "Dsor1;2;CG15793;D-MEK/Dsor;D-MEK;D-Mek;D-SOR;D-Sor;D-mek;D-sor-1;D-sor;DMEK-1;DRODSOR1;DSOR1;DSORT;DSOR;DSor1;DSor;Dmek;Dmel\\CG15793;Dmel_CG15793;Dsor1;Dsor;EK1-1;MAPKK;MEK/Dsor1;MEK1/2;MEK1;MEK;Mek1/2;Mek;SOR;Sor;Su(Raf)34B;dMEK;dMek;dSor1;dSor;dsor1;dsor;mek;sor/MEK1;sor", "protein_name": "Dual specificity mitogen-activated protein kinase kinase dSOR1", "disease": [ { "disease_id": "DOID:0060233", "name": "cardiofaciocutaneous syndrome", "description": "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.", "url": "https://disease-ontology.org/term/DOID:0060233", "evidence": [ { "id": "0060233", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060233" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ], "weight": 0.0 }, { "disease_id": "DOID:0111462", "name": "cardiofaciocutaneous syndrome 3", "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.", "url": "https://disease-ontology.org/term/DOID:0111462", "evidence": [ { "id": "0111462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111462" } ], "weight": 0.0 }, { "disease_id": "DOID:0111463", "name": "cardiofaciocutaneous syndrome 4", "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0111463", "evidence": [ { "id": "0111463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111463" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 }, { 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contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060652", "name": "familial erythrocytosis 1", "description": "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.", "url": "https://disease-ontology.org/term/DOID:0060652", "evidence": [ { "id": "0060652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060652" } ], "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:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081042", "name": "T-cell prolymphocytic leukemia", "description": "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin.", "url": "https://disease-ontology.org/term/DOID:0081042", "evidence": [ { "id": "0081042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081042" } ], "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:0081312", "name": "T-cell non-Hodgkin lymphoma", "description": "A non-Hodgkin lymphoma of T-cell lineage.", "url": "https://disease-ontology.org/term/DOID:0081312", "evidence": [ { "id": "0081312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081312" } ], "weight": 0.0 }, { "disease_id": "DOID:0090014", "name": "severe combined immunodeficiency 104", "description": "A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13.", "url": "https://disease-ontology.org/term/DOID:0090014", "evidence": [ { "id": "0090014", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090014" } ], "weight": 0.0 }, { "disease_id": "DOID:0111989", "name": "immunodeficiency 35", "description": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0111989", "evidence": [ { "id": "0111989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111989" } ], "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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "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: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:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "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:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the 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"https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "primary sex determination", "id": "GO:0007538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007538", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "positive regulation of heterochromatin formation", "id": "GO:0031453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031453", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "male germ-line sex determination", "id": "GO:0019100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019100", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "periodic partitioning", "id": "GO:0007365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007365", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "haltere disc morphogenesis", "id": "GO:0007481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007481", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "mediolateral intercalation", "id": "GO:0060031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060031", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "blastoderm segmentation", "id": "GO:0007350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007350", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "eye-antennal disc morphogenesis", "id": "GO:0007455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007455", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "wing disc morphogenesis", "id": "GO:0007472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007472", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "leg disc morphogenesis", "id": "GO:0007478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007478", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "ommatidial rotation", "id": "GO:0016318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016318", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "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": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "follicle cell of egg chamber stalk formation", "id": "GO:0030713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030713", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "larval lymph gland hemopoiesis", "id": "GO:0035167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035167", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "establishment of ommatidial planar polarity", "id": "GO:0042067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042067", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "hemocyte differentiation", "id": "GO:0042386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042386", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "equator specification", "id": "GO:0045317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045317", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": "https://www.uniprot.org/uniprotkb/Q24592" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q24592", "url": 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{ "id": "0080130", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080130" } ], "weight": 0.0 }, { "disease_id": "DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0080335", "evidence": [ { "id": "0080335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080335" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", 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"name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051124", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprotkb/Q26365" } ], "pmid": "" }, { "name": "chemical 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"database": "UniProtKB", "id": "Q5BI31", "url": "https://www.uniprot.org/uniprotkb/Q5BI31" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1322, "chemical_mass": 148123.0, "gene_names": "Alms1a;Alms1a;CG12179;Dmel\\CG12179;EG:66A1.2;alms1a", "protein_name": "Centrosome-associated protein Alms1a", "disease": [], "biological_process": [ { "name": "positive regulation of centriole replication", "id": "GO:0046601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046601", "evidence": [ { "database": "UniProtKB", "id": "Q5BI31", "url": "https://www.uniprot.org/uniprotkb/Q5BI31" } ], "pmid": "" }, { "name": "male germ-line stem cell asymmetric division", "id": "GO:0048133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048133", "evidence": [ { "database": "UniProtKB", "id": "Q5BI31", "url": "https://www.uniprot.org/uniprotkb/Q5BI31" } ], "pmid": "" }, { "name": "positive regulation of centrosome duplication", 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"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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "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: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:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells 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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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 } ], "biological_process": [ { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "meiotic DNA double-strand break processing", "id": "GO:0000706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000706", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "histone kinase activity", "id": "GO:0035173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035173", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q5EAK6", "url": "https://www.uniprot.org/uniprotkb/Q5EAK6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5EAK6-1", "start_pos": "1440", "end_pos": "1440", "site_lbl": "Thr1440", "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": 1440, "start_aa": "Thr", "end_pos": 1440, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1440", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q5EAK6-1", "start_pos": "2175", "end_pos": "2175", "site_lbl": "Thr2175", "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": 2175, "start_aa": "Thr", "end_pos": 2175, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2175", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q5EAK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5EAK6" } ] } ] }, { "uniprot_canonical_ac": "Q5EAK6-1", "start_pos": "2180", "end_pos": "2180", "site_lbl": "Thr2180", "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": 2180, "start_aa": "Thr", "end_pos": 2180, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2180", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q5EAK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5EAK6" } ] } ] }, { "uniprot_canonical_ac": "Q5EAK6-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 2, "start_aa": "Ser", "end_pos": 2, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q5EAK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5EAK6" } ] } ] }, { "uniprot_canonical_ac": "Q5EAK6-1", "start_pos": "913", "end_pos": "913", "site_lbl": "Thr913", "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": 913, "start_aa": "Thr", "end_pos": 913, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr913", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q5EAK6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5EAK6" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q5LJP9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q5LJP9", "url": "https://www.uniprot.org/uniprotkb/Q5LJP9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 564, "chemical_mass": 64746.0, "gene_names": "CG17486;CG40291;Dmel\\CG17486", "protein_name": "Asparagine synthetase domain-containing protein CG17486", "disease": [ { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "biological_process": [ { "name": "L-asparagine biosynthetic process", "id": "GO:0070981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070981", "evidence": [ { "database": "UniProtKB", "id": "Q5LJP9", "url": "https://www.uniprot.org/uniprotkb/Q5LJP9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q6WV17-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 630, "chemical_mass": 72097.0, "gene_names": "Pgant5;CG31651;CG9152;Dmel\\CG31651;PGANT5;Pgant5;l(2)e02157;pgant5;pgnat5", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 5", "disease": [ { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "Golgi stack", "id": "GO:0005795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005795", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004653", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" }, { "name": "protein O-linked glycosylation via N-acetyl-galactosamine", "id": "GO:0016266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016266", "evidence": [ { "database": "UniProtKB", "id": "Q6WV17", "url": "https://www.uniprot.org/uniprotkb/Q6WV17" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6WV17-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asn166", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "Q6WV17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6WV17#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { 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"" }, { "name": "establishment of mitotic spindle asymmetry", "id": "GO:0061867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061867", "evidence": [ { "database": "UniProtKB", "id": "Q7K4B3", "url": "https://www.uniprot.org/uniprotkb/Q7K4B3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q7K4B4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q7K4B4", "url": "https://www.uniprot.org/uniprotkb/Q7K4B4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 685, "chemical_mass": 77978.0, "gene_names": "dgt5;CG8828;Dgt5;Dmel\\CG8828;dgt5;msd2", "protein_name": "Augmin complex subunit dgt5", "disease": [], "biological_process": [ { "name": "regulation of microtubule nucleation", "id": "GO:0010968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010968", 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"telomeric DNA binding", "id": "GO:0042162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042162", "evidence": [ { "database": "UniProtKB", "id": "Q95RV2", "url": "https://www.uniprot.org/uniprotkb/Q95RV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q95RV2-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Pro298", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "E", "comment": "Prevents binding to HP1 hinge domain but no effect on binding to HP1 chromoshadow domain.", "evidence": [ { "database": "UniProtKB", "id": "Q95RV2", "url": "https://www.uniprot.org/uniprotkb/Q95RV2" }, { "database": "PubMed", "id": "12826664", "url": "https://glygen.org/publication/PubMed/12826664" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q95SK3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 509, "chemical_mass": 57742.0, "gene_names": "CG30291;CG3282;Dmel\\CG30291", "protein_name": "CDK5RAP3 protein homolog", "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q95SK3", "url": "https://www.uniprot.org/uniprotkb/Q95SK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q95T12-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 194, "chemical_mass": 20620.0, "gene_names": "fwe;CG6151;Dmel\\CG6151;Fwe;anon-WO0118547.242;dFwe;drFlower;flower;fwe", "protein_name": "Calcium channel flower", "disease": [], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "photoreceptor cell differentiation", "id": "GO:0046530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046530", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "cell competition in a multicellular organism", "id": "GO:0035212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035212", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "positive regulation of presynaptic cytosolic calcium concentration", "id": "GO:0099533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099533", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "clathrin-dependent synaptic vesicle endocytosis", "id": "GO:0150007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150007", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" }, { "name": "bulk synaptic vesicle endocytosis", "id": "GO:0150008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150008", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "100", "end_pos": "100", "site_lbl": "Lys100", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2); when associated with A-95, A-105 and 146-A--A-150. Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-95, A-105 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Arg105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Decreased binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2); when associated with A-95, A-100 and 146-A--A-150. Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-95, A-100 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Gly128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "In allele DB25; defect in synaptic transmission and homozygous lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "19737521", "url": "https://glygen.org/publication/PubMed/19737521" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Glu79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Impaired Ca(2+) channel activity. Heterologous expression in salivary glands shows inhibition of calcium influx. Following strong stimulation that induces activity-dependent bulk endocytosis (ADBE), loses ability to promote the Ca(2+) channel-dependent formation of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) microdomains at periactive zones in the synaptic boutons of larval NMJs. However, no effect on activating Clathrin-mediated endocytosis (CME) in NMJ boutons in response to mild stimulation.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "19737521", "url": "https://glygen.org/publication/PubMed/19737521" }, { "database": "PubMed", "id": "28414717", "url": "https://glygen.org/publication/PubMed/28414717" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] }, { "uniprot_canonical_ac": "Q95T12-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Glu95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2); when associated with A-100, A-105 and 146-A--A-150. Severe decrease in binding to PtdIns(4,5)P2; when associated with 29-A--A-33, A-100, A-105 and 146-A--A-150.", "evidence": [ { "database": "UniProtKB", "id": "Q95T12", "url": "https://www.uniprot.org/uniprotkb/Q95T12" }, { "database": "PubMed", "id": "33300871", "url": "https://glygen.org/publication/PubMed/33300871" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q95TJ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q95TJ9", "url": "https://www.uniprot.org/uniprotkb/Q95TJ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 566, "chemical_mass": 62791.0, "gene_names": "CycG;CG 11525;CG11525;CycG;Dmel\\CG11525;anon-EST:Liang-1.25;anon-EST:Liang-2.24;chr3R:27424276..27424475;clone 1.25;clone 2.24;cycG;dCycG;i205;i261", "protein_name": "Cyclin G", "disease": [ { "disease_id": "DOID:0050933", "name": "ovarian serous carcinoma", "description": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.", "url": "https://disease-ontology.org/term/DOID:0050933", "evidence": [ { "id": "0050933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050933" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "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:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ 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epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3356", "name": "localized osteosarcoma", "description": "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic 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"Capa;CAP-2b;CAP2B-1;CAP2B-2;CAP2B-3;CAP2B/pyrokinin;CAP2b-1;CAP2b-2;CAP2b-3;CAP2b;CAPA-PK;CAPA-PVK-1;CAPA-PVK-2;CAPA-PVK/PK;CAPA;CAP[[2b]];CAP;CG15520;CPPB;Cap-1;Cap-2b;Cap-2;Cap-3;Capa-1;Capa-2;Capa-PK;Capa;Dmel\\CG15520;Drm-CAP-1;Drm-CAP-2;Drm-CAP2b/MT;Drm-MT;Drm-PK-1;Drm-PK;Drm-PVK-1;Drm-PVK-2;Drm-PVK;Drm-capa-1;Drome-capa-1;MT-CAP2b;PVK-2;capa 2;capa-1;capa-2;capa-3;capa;pyrokinin/PBAN-like", "protein_name": "Cardio acceleratory peptide 2b", "disease": [], "biological_process": [ { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "Q9NIP6", "url": "https://www.uniprot.org/uniprotkb/Q9NIP6" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q9NIP6", "url": "https://www.uniprot.org/uniprotkb/Q9NIP6" } ], "pmid": 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"glycine catabolic process", "id": "GO:0006546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006546", "evidence": [ { "database": "UniProtKB", "id": "Q9U616", "url": "https://www.uniprot.org/uniprotkb/Q9U616" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "Q9U616", "url": "https://www.uniprot.org/uniprotkb/Q9U616" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9U6Y9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 610, "chemical_mass": 69741.0, "gene_names": "csul;ART5;CG3730;Csul;DART5;Dart5;Dmel\\CG3730;JBP1;PRMT5;csul;dPRMT5;dart5;dprmt5", "protein_name": "Protein arginine N-methyltransferase 5", "disease": [ { "disease_id": "DOID:0060250", "name": "idiopathic scoliosis", "description": "A scoliosis with no known cause.", "url": "https://disease-ontology.org/term/DOID:0060250", "evidence": [ { "id": "0060250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060250" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "P granule organization", "id": "GO:0030719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030719", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "pole plasm assembly", "id": "GO:0007315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007315", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "pole plasm protein localization", "id": "GO:0007318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007318", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein methyltransferase activity", "id": "GO:0008276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008276", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "protein-arginine N-methyltransferase activity", "id": "GO:0016274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016274", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" }, { "name": "protein-arginine omega-N symmetric methyltransferase activity", "id": "GO:0035243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035243", "evidence": [ { "database": "UniProtKB", "id": "Q9U6Y9", "url": "https://www.uniprot.org/uniprotkb/Q9U6Y9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9U9Q4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 338, "chemical_mass": 38408.0, "gene_names": "eIF3h;BcDNA:GM14618;CG9124;Dmel\\CG9124;Dmel_CG9124;EIF3H;Q9U9Q4;eIF-3p40;eIF-3;eIF3-S3;eIF3h;eIF3p40;eIf3-p44;eif3-S3;l(2)k09003", "protein_name": "Eukaryotic translation initiation factor 3 subunit H", "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:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "eukaryotic 43S preinitiation complex", "id": "GO:0016282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016282", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "eukaryotic 48S preinitiation complex", "id": "GO:0033290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033290", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "metal-dependent deubiquitinase activity", "id": "GO:0140492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140492", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" }, { "name": "formation of cytoplasmic translation initiation complex", "id": "GO:0001732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001732", "evidence": [ { "database": "UniProtKB", "id": "Q9U9Q4", "url": "https://www.uniprot.org/uniprotkb/Q9U9Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9UAS6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 80503.0, "gene_names": "cmtr2;CG5032;CMTr2;Dmel\\CG5032;EG:52C10.7;aft", "protein_name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2", "disease": [], "molecular_function": [ { "name": "methyltransferase cap1 activity", "id": "GO:0004483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004483", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "methyltransferase cap2 activity", "id": "GO:0120550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120550", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of intracellular mRNA localization", "id": "GO:1904582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904582", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "7-methylguanosine mRNA capping", "id": "GO:0006370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006370", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9UAS6", "url": "https://www.uniprot.org/uniprotkb/Q9UAS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V393-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 470, "chemical_mass": 51237.0, "gene_names": "krz;0952/14;14;CG1487;Dmel\\CG1487;Dmel_CG1487;Krz;Kurtz;beta-arr2;krz;l(3)S095214", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0061104", "name": "retinitis pigmentosa 96", "description": "A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061104", "evidence": [ { "id": "0061104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061104" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0110369", "name": "retinitis pigmentosa 47", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110369", "evidence": [ { "id": "0110369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110369" } ], "weight": 0.0 }, { "disease_id": "DOID:0110712", "name": "Oguchi disease-1", "description": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0110712", "evidence": [ { "id": "0110712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110712" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8498", "name": "hereditary night blindness", "description": "", "url": "https://disease-ontology.org/term/DOID:8498", "evidence": [ { "id": "8498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8498" } ], "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:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "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": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "negative regulation of Toll signaling pathway", "id": "GO:0045751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045751", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" }, { "name": "positive regulation of protein desumoylation", "id": "GO:0060189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060189", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "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": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9V393", "url": "https://www.uniprot.org/uniprotkb/Q9V393" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V399-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 503, "chemical_mass": 57877.0, "gene_names": "Cyp303a1;303a1;BG:DS02740.6;CG4163;CYP303A1-Dm;CYP303A1;Cyp303A1;Cyp303a1;Dmel\\CG4163;Dmel_CG4163;I(2)35Fb;l(2)35Fb;nompH1;nompH", "protein_name": "Probable cytochrome P450 303a1", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050083", "name": "Keshan disease", "description": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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"name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q9V399", "url": "https://www.uniprot.org/uniprotkb/Q9V399" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V3A4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 449, "chemical_mass": 48658.0, "gene_names": "Catsup;Bc;CATSUP;CG10449;Catsup;Dmel\\CG10449;ZipCatsup;catsup;cg10449;dCATSUP;dZIP7;dZipCATSUP;dZipCatsup;fs(2)ltoQT50;l(2)37Bc;l(2)E13;l(2)k05402;l(2)k05424", "protein_name": "Protein catecholamines up", "disease": [ { "disease_id": "DOID:0081141", "name": "agammaglobulinemia 9", "description": "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0081141", "evidence": [ { "id": "0081141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081141" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of catecholamine metabolic process", "id": "GO:0042069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042069", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "detoxification of zinc ion", "id": "GO:0010312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010312", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "zinc ion transmembrane transport", "id": "GO:0071577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071577", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "ovarian nurse cell to oocyte transport", "id": "GO:0007300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007300", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "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": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration, open tracheal system", "id": "GO:2000274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000274", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A4", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9V3A4-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Asn316", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 316, "start_aa": "Asn", "end_pos": 316, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn316", "evidence": [ { "id": "Q9V3A4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9V3A4#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V3A6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V3A6", "url": "https://www.uniprot.org/uniprotkb/Q9V3A6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 483, "chemical_mass": 55660.0, "gene_names": "Ero1L;CG1333;Dmel\\CG1333;ERO1-L;Ero1L;Ero1l;Ero1;ero1L;kiga;l(3)64Ag;l(3)SH22", "protein_name": "Ero1-like protein", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A6", "url": "https://www.uniprot.org/uniprotkb/Q9V3A6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V3A6", "url": 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{ "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis 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The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3713", "name": "ovary adenocarcinoma", "description": "An ovarian carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3713", "evidence": [ { "id": "3713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4810", "name": "cerebrotendinous xanthomatosis", "description": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:4810", "evidence": [ { "id": "4810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4810" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": 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multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V5L3", "url": "https://www.uniprot.org/uniprotkb/Q9V5L3" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transporter activity", "id": "GO:0005313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005313", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "L-aspartate transmembrane transporter activity", "id": "GO:0015183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015183", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "3-sulfino-L-alanine: proton, glutamate antiporter activity", "id": "GO:0000514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000514", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "aspartate:glutamate, proton antiporter activity", "id": "GO:0000515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000515", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" } ], "biological_process": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid transport", "id": "GO:0015812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015812", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "aspartate transmembrane transport", "id": "GO:0015810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015810", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "L-aspartate transmembrane transport", "id": "GO:0070778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070778", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q9VA73", "url": "https://www.uniprot.org/uniprotkb/Q9VA73" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V979-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V979", "url": "https://www.uniprot.org/uniprotkb/Q9V979" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 488, "chemical_mass": 55508.0, "gene_names": "Cyp6u1;6u1;CG3567;Cyp6u1;Dmel\\CG3567;Dmel_CG3567", "protein_name": "Probable cytochrome P450 6u1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V979", "url": "https://www.uniprot.org/uniprotkb/Q9V979" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V979", "url": "https://www.uniprot.org/uniprotkb/Q9V979" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V979", "url": "https://www.uniprot.org/uniprotkb/Q9V979" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V9L1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0040040", "evidence": [ { "database": "UniProtKB", "id": "Q9V770", "url": "https://www.uniprot.org/uniprotkb/Q9V770" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9W2A3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2A3", "url": "https://www.uniprot.org/uniprotkb/Q9W2A3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 413, "chemical_mass": 48603.0, "gene_names": "Dmel\\CG13501;CG13501;Dmel\\CG13501;Dmel_CG13501", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V769-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": 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organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "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: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 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": "https://www.uniprot.org/uniprotkb/Q9V769" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": "https://www.uniprot.org/uniprotkb/Q9V769" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": "https://www.uniprot.org/uniprotkb/Q9V769" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": "https://www.uniprot.org/uniprotkb/Q9V769" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V769", "url": "https://www.uniprot.org/uniprotkb/Q9V769" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VN19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN19", "url": "https://www.uniprot.org/uniprotkb/Q9VN19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 339, "chemical_mass": 38490.0, "gene_names": "Dmel\\CG9853;BEST:LD21829;CG41469;CG9853;Dmel\\CG9853;Dmel_CG9853;Get4", "protein_name": "Golgi to ER traffic protein 4 homolog", "disease": [ { "disease_id": "DOID:0051052", "name": "congenital disorder of glycosylation type IIy", "description": "A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound 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"" } ], "molecular_function": [ { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "Q9VN19", "url": "https://www.uniprot.org/uniprotkb/Q9VN19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VI60-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI60", "url": "https://www.uniprot.org/uniprotkb/Q9VI60" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 95, "chemical_mass": 10829.0, "gene_names": "e(y)2b;CG14612;Dmel\\CG14612;Dmel_CG14612;e(y)2b;e(y)2", "protein_name": "Enhancer of yellow 2b transcription factor", "disease": [], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": 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"database": "UniProtKB", "id": "Q9VI60", "url": "https://www.uniprot.org/uniprotkb/Q9VI60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VNH1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 300, "chemical_mass": 34724.0, "gene_names": "Amus;BCDIN3D;CG1239;Dmel\\CG1239;Dmel_CG1239;cg1239", "protein_name": "U6 snRNA methylphosphate capping enzyme Amus", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "pmid": "" } ], "molecular_function": [ { "name": "O-methyltransferase activity", "id": "GO:0008171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008171", "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "pmid": "" }, { "name": "snRNA binding", "id": "GO:0017069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017069", "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "pmid": "" }, { "name": "RNA methyltransferase activity", "id": "GO:0008173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008173", "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "pmid": "" }, { "name": "U6 snRNA binding", "id": "GO:0017070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017070", "evidence": [ { "database": "UniProtKB", "id": "Q9VNH1", "url": "https://www.uniprot.org/uniprotkb/Q9VNH1" } ], "pmid": "" } ], "biological_process": [ { "name": "snRNA 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"https://www.uniprot.org/uniprotkb/Q9VQ56" } ], "pmid": "" }, { "name": "axonogenesis involved in innervation", "id": "GO:0060385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060385", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ56", "url": "https://www.uniprot.org/uniprotkb/Q9VQ56" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ56", "url": "https://www.uniprot.org/uniprotkb/Q9VQ56" } ], "pmid": "" }, { "name": "axon target recognition", "id": "GO:0007412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007412", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ56", "url": "https://www.uniprot.org/uniprotkb/Q9VQ56" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q9VQ56", 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"name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "meiosis I cytokinesis", "id": "GO:0007110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007110", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" }, { "name": "meiosis II cytokinesis", "id": "GO:0007111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007111", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD3", "url": "https://www.uniprot.org/uniprotkb/Q9VJD3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9W0P5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:9870", "name": "galactosemia", "description": "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.", "url": "https://disease-ontology.org/term/DOID:9870", "evidence": [ { "id": "9870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9870" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" } ], "biological_process": [ { "name": "UDP-N-acetylglucosamine biosynthetic process", "id": "GO:0006048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006048", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "galactose catabolic process via UDP-galactose, Leloir pathway", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-galactose biosynthetic process", "id": "GO:0052574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052574", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-N-acetylgalactosamine biosynthetic process", "id": "GO:0019277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019277", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-alpha-D-glucose biosynthetic process", "id": "GO:0120530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120530", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" } ], "molecular_function": [ { "name": "UDP-glucose 4-epimerase activity", "id": "GO:0003978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003978", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" }, { "name": "UDP-N-acetylglucosamine 4-epimerase activity", "id": "GO:0003974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003974", "evidence": [ { "database": "UniProtKB", "id": "Q9W0P5", "url": "https://www.uniprot.org/uniprotkb/Q9W0P5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002165", "evidence": [ { "database": "UniProtKB", "id": "Q9VW60", "url": "https://www.uniprot.org/uniprotkb/Q9VW60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VW60-1", "start_pos": "1019", "end_pos": "1019", "site_lbl": "Asn1019", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1019, "start_aa": "Asn", "end_pos": 1019, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1019", "evidence": [ { "id": "Q9VW60", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VW60#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9VW60-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Thr671", "weight": 0.0, 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protein 1", "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": "Q9VUQ8", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ8" } ], "pmid": "" }, { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ8", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ8" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ8", "url": "https://www.uniprot.org/uniprotkb/Q9VUQ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VUQ8", "url": 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43967.0, "gene_names": "Acp76A;(Acp)76A;Acp76A;Acp76;CG3801;Dmel\\CG3801;Dmel_CG3801;Spn76A", "protein_name": "Accessory gland protein Acp76A", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW1", "url": "https://www.uniprot.org/uniprotkb/Q9VVW1" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW1", "url": "https://www.uniprot.org/uniprotkb/Q9VVW1" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VVW1", "url": "https://www.uniprot.org/uniprotkb/Q9VVW1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VVW1-1", "start_pos": 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"start_aa": "Asn", "end_pos": 378, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn378", "evidence": [ { "id": "Q9VVW1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VVW1#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VJD2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 124, "chemical_mass": 13781.0, "gene_names": "Lamtor3;BcDNA:RE09173;CG5110;Dmel\\CG5110;Dmel_CG5110;Lamtor3;MP1;dMP1", "protein_name": "Ragulator complex protein LAMTOR3 homolog", "disease": [], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "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": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Ragulator complex", "id": "GO:0071986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071986", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VJD2", "url": "https://www.uniprot.org/uniprotkb/Q9VJD2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VMJ7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VMJ7", "url": "https://www.uniprot.org/uniprotkb/Q9VMJ7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1838, "chemical_mass": 203993.0, "gene_names": "Kdm5;CG9088;Dmel\\CG9088;Dmel_CG9088;KDM5;Kdm5;LID;Lid/KDM5;Lid;dJARID1;dKDM5/LID;dKDM5;kdm5;l(2)10424;lid", "protein_name": "Lysine-specific demethylase 5", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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"https://www.alliancegenome.org/disease/DOID:0060809" } ], "weight": 0.0 }, { "disease_id": "DOID:0081226", "name": "autosomal recessive intellectual developmental disorder 65", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081226", "evidence": [ { "id": "0081226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081226" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:12190", "name": "descending colon cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:12190", "evidence": [ { "id": "12190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12190" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle 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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: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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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"url": "https://www.uniprot.org/uniprotkb/Q9VQN8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VQN8", "url": "https://www.uniprot.org/uniprotkb/Q9VQN8" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9VQN8", "url": "https://www.uniprot.org/uniprotkb/Q9VQN8" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VQN8", "url": "https://www.uniprot.org/uniprotkb/Q9VQN8" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule severing", "id": "GO:0051013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051013", "evidence": [ { "database": "UniProtKB", "id": "Q9VQN8", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" }, { "name": "gamma-secretase complex", "id": "GO:0070765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070765", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9VQG2", "url": "https://www.uniprot.org/uniprotkb/Q9VQG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9VLJ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 630, "chemical_mass": 73057.0, "gene_names": "Acer;ACER;ACE;Acer;CG10593;Dmel\\CG10593;Dmel_CG10593;acer;l(2)k07704", "protein_name": "Angiotensin-converting enzyme-related protein", "disease": [ { "disease_id": "DOID:0050152", "name": "aspiration pneumonia", "description": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. 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This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0110861", "name": "autosomal recessive 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 recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14069", "name": "cerebral malaria", "description": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.", "url": "https://disease-ontology.org/term/DOID:14069", "evidence": [ { "id": "14069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14069" } ], "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: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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "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:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID: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:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "peptidyl-dipeptidase activity", "id": "GO:0008241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008241", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ6" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045938", "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ6", "url": 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reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V3S0", "url": "https://www.uniprot.org/uniprotkb/Q9V3S0" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": 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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:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "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: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9V6H1", "url": "https://www.uniprot.org/uniprotkb/Q9V6H1" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9V6H1", "url": "https://www.uniprot.org/uniprotkb/Q9V6H1" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9V6H1", "url": "https://www.uniprot.org/uniprotkb/Q9V6H1" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9V6H1", "url": "https://www.uniprot.org/uniprotkb/Q9V6H1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9V6H1", "url": "https://www.uniprot.org/uniprotkb/Q9V6H1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V6U9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 357, "chemical_mass": 39111.0, "gene_names": "Mecr;CG16935;DM_7303260;Dmel\\CG16935", "protein_name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial", "disease": [ { "disease_id": "DOID:0081419", "name": "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities", "description": "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR 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Optic atrophy develops around the same time or slightly later.", "url": "https://disease-ontology.org/term/DOID:0081419", "evidence": [ { "id": "0081419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081419" } ], "weight": 0.0 }, { "disease_id": "DOID:0111756", "name": "Leber hereditary optic neuropathy with demyelinating disease of CNS", "description": "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.", "url": "https://disease-ontology.org/term/DOID:0111756", "evidence": [ { "id": "0111756", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111756" } ], "weight": 0.0 }, { "disease_id": "DOID:5723", "name": "optic atrophy", "description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.", "url": "https://disease-ontology.org/term/DOID:5723", "evidence": [ { "id": "5723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5723" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" } ], "molecular_function": [ { "name": "enoyl-[acyl-carrier-protein] reductase (NADPH) activity", "id": "GO:0141148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141148", "evidence": [ { "database": "UniProtKB", "id": "Q9V6U9", "url": "https://www.uniprot.org/uniprotkb/Q9V6U9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V726-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1455, "chemical_mass": 164681.0, "gene_names": "Cpsf160;CG10110;CPSF-160;CPSF160;CPSF;Cpsf160;Cpsf;Dmel\\CG10110;anon-WO0118547.217;cpsf;dCPSF-160", "protein_name": "Cleavage and polyadenylation specificity factor subunit 1", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "pmid": "" } ], "molecular_function": [ { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA 3'-end processing", "id": "GO:0031124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031124", "evidence": [ { "database": "UniProtKB", "id": "Q9V726", "url": "https://www.uniprot.org/uniprotkb/Q9V726" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.7" }, { "uniprot_canonical_ac": "Q9V771-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V771", "url": "https://www.uniprot.org/uniprotkb/Q9V771" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 502, "chemical_mass": 58089.0, "gene_names": "Cyp6a23;6a23;CG10242;CYP6A23;Cyp6A23;Cyp6a23;Cypa23;Dmel\\CG10242;cyp6a23", "protein_name": "Probable cytochrome P450 6a23", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, 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"evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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"name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over 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"uniprot_canonical_ac": "Q9V773-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9V773", "url": "https://www.uniprot.org/uniprotkb/Q9V773" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 501, "chemical_mass": 57729.0, "gene_names": "Cyp6a20;6a20;CG10245;CYP6a20;Cyp6a20;Dmel\\CG10245;agg;cyp6a20;p450", "protein_name": "Probable cytochrome P450 6a20", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": 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In larp-10A, loss of phosphorylation by Pink1; when associated with A-66; A-182; A-186; 219-A-A-221; A-828; A-1119 and 1510-A-A-1512.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Phosphomimetic mutant, partially rescues mtDNA levels and hatching rate in spoon null mutants; when associated with D-66.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "1119", "end_pos": "1119", "site_lbl": "Ser1119", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAW5" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Partially rescues nascent protein synthesis and PolG1 expression in mitochondria containing deleterious mutations. Partially rescues mtDNA levels and hatching rate in spoon null mutants. In larp-10A, loss of phosphorylation by Pink1; when associated with A-66; A-107; A-182; A-186; 219-A-A-221; A-828 and 1510-A-A-1512.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant, severe reduction in ability to rescue mtDNA levels and hatching rate in spoon null mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAW5" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "1261", "end_pos": "1261", "site_lbl": "Ser1261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAW5" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "1315", "end_pos": "1315", "site_lbl": "Tyr1315", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAW5" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "1510", "end_pos": "1510", "site_lbl": "Ser1510", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": 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In larp-10A, loss of phosphorylation by Pink1; when associated with A-66; A-107; A-186; 219-A-A-221; A-828; A-1119 and 1510-A-A-1512.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phosphomimetic mutant, partially rescues mtDNA levels and hatching rate in spoon null mutants; when associated with D-186.", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" } ] } ] }, { "uniprot_canonical_ac": "Q9VAW5-3", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAW5", "url": "https://www.uniprot.org/uniprotkb/Q9VAW5" }, { "database": "PubMed", "id": "30772175", "url": "https://glygen.org/publication/PubMed/30772175" }, { "database": "iPTMnet", "id": "Q9VAW5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAW5" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Partially rescues mtDNA levels and hatching rate in spoon null mutants; when associated with A-182. 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