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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: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:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "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": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "negative regulation of heterochromatin formation", "id": "GO:0031452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031452", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "histone deacetylase activity, NAD-dependent", "id": "GO:0017136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017136", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, NAD-dependent", "id": "GO:0046969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046969", "evidence": [ { "database": "UniProtKB", "id": "Q9VH08", "url": "https://www.uniprot.org/uniprotkb/Q9VH08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH08-1" }, { "uniprot_canonical_ac": "Q9VH90-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 778, "chemical_mass": 88199.0, "gene_names": "trbd;CG9448;Dmel\\CG9448;Q9VH90;Trabid;Trbd;dTrbd;trbd", "protein_name": "Ubiquitin thioesterase trabid", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "K63-linked polyubiquitin modification-dependent protein binding", "id": "GO:0070530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070530", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "K63-linked deubiquitinase activity", "id": "GO:0061578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061578", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" } ], "biological_process": [ { "name": "protein K63-linked deubiquitination", "id": "GO:0070536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070536", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "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": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" }, { "name": "protein deubiquitination involved in ubiquitin-dependent protein catabolic process", "id": "GO:0071947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071947", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "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": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Thr68", "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": 68, "start_aa": "Thr", "end_pos": 68, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr68", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Ser770", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Ser771", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] }, { "uniprot_canonical_ac": "Q9VH90-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ser775", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VH90", "url": "https://www.uniprot.org/uniprotkb/Q9VH90" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VH90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VH90" } ] } ] } ], "record_id": "Q9VH90-1" }, { "uniprot_canonical_ac": "Q9VHF2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHF2", "url": "https://www.uniprot.org/uniprotkb/Q9VHF2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 350, "chemical_mass": 39297.0, "gene_names": "CG18473;CG8125;Dmel\\CG18473", "protein_name": "Phosphotriesterase-related 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": "Q9VHF2", "url": "https://www.uniprot.org/uniprotkb/Q9VHF2" } ], "pmid": "" }, { "name": "N-acetyltaurine hydrolase activity", "id": "GO:0141215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141215", "evidence": [ { "database": "UniProtKB", "id": "Q9VHF2", "url": "https://www.uniprot.org/uniprotkb/Q9VHF2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHF2-1" }, { "uniprot_canonical_ac": "Q9VHG4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 320, "chemical_mass": 34421.0, "gene_names": "ATP6AP2;ATP6AP2;CG8444;Dmel\\CG8444;VhaM8-9;VhaM8.9;VhaPRR;dPRR;vhaM8.9", "protein_name": "ATPase H(+)-transporting accessory protein 2", "disease": [ { "disease_id": "DOID:0051048", "name": "congenital disorder of glycosylation type IIr", "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0051048", "evidence": [ { "id": "0051048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051048" } ], "weight": 0.0 }, { "disease_id": "DOID:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 }, { "disease_id": "DOID:0060806", "name": "syndromic X-linked intellectual disability Hedera type", "description": "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060806", "evidence": [ { "id": "0060806", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060806" } ], "weight": 0.0 }, { "disease_id": "DOID:0112105", "name": "X-linked parkinsonism-spasticity syndrome", "description": "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4.", "url": "https://disease-ontology.org/term/DOID:0112105", "evidence": [ { "id": "0112105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112105" } ], "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:5212", "name": "congenital disorder of glycosylation", "description": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.", "url": "https://disease-ontology.org/term/DOID:5212", "evidence": [ { "id": "5212", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5212" } ], "weight": 0.0 } ], "biological_process": [ { "name": "compound eye development", "id": "GO:0048749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048749", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "vacuolar proton-transporting V-type ATPase complex assembly", "id": "GO:0070072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070072", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "protein localization involved in establishment of planar polarity", "id": "GO:0090251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090251", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "phototaxis", "id": "GO:0042331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042331", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of body hair or bristle planar orientation", "id": "GO:0048104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048104", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "establishment of imaginal disc-derived wing hair orientation", "id": "GO:0001737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001737", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "imaginal disc-derived wing hair organization", "id": "GO:0035317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035317", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG4", "url": "https://www.uniprot.org/uniprotkb/Q9VHG4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens 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: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:9975", "name": "cocaine dependence", "description": "A 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"https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "positive regulation of feeding behavior", "id": "GO:2000253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000253", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "regulation of response to ethanol", "id": "GO:1901416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901416", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone H4K16 deacetylase activity, NAD-dependent", "id": "GO:0046970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046970", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "Q9VK34", "url": "https://www.uniprot.org/uniprotkb/Q9VK34" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" } ], "biological_process": [ { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "meiotic cytokinesis", "id": "GO:0033206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033206", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic spindle midzone assembly", "id": "GO:0051256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051256", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic sister chromatid segregation", "id": "GO:0000070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000070", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "female germ-line stem cell asymmetric division", "id": "GO:0048132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048132", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "meiotic spindle midzone assembly", "id": "GO:0051257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051257", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "mitotic sister chromatid biorientation", "id": "GO:1990758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990758", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "meiotic sister chromatid segregation", "id": "GO:0045144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045144", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" }, { "name": "repair of mitotic kinetochore microtubule attachment defect", "id": "GO:0140273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140273", "evidence": [ { "database": "UniProtKB", "id": "Q9VKN7", "url": "https://www.uniprot.org/uniprotkb/Q9VKN7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKN7-1" }, { "uniprot_canonical_ac": "Q9VKQ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 944, "chemical_mass": 106828.0, "gene_names": "CG6729;Dmel\\CG6729", "protein_name": "Nonsense-mediated mRNA decay factor SMG8", "disease": [], "biological_process": [ { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKQ6-1" }, { "uniprot_canonical_ac": "Q9VKQ9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 134, "chemical_mass": 13794.0, "gene_names": "Dpy-30L1;CG6444;DPY30;Dmel\\CG6444;Dpy-30L1;Dpy30;dDPY30-L1;dpy-30L1;dpy30", "protein_name": "Protein dpy-30 homolog", "disease": [ { "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 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ9" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ9" } ], "pmid": "" }, { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "Q9VKQ9", "url": "https://www.uniprot.org/uniprotkb/Q9VKQ9" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": 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"sites": [], "record_id": "Q9VLP4-1" }, { "uniprot_canonical_ac": "Q9VLQ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 37081.0, "gene_names": "wol;ALG5;Alg5;CG7870;Dmel\\CG7870;Wol;alg5;dAlg5;wol", "protein_name": "Dolichyl-phosphate beta-glucosyltransferase", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 }, { "disease_id": "DOID:0060952", "name": "polycystic kidney disease 7", "description": "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13.", "url": "https://disease-ontology.org/term/DOID:0060952", "evidence": [ { "id": "0060952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "plasma membrane organization", "id": "GO:0007009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007009", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "dolichol-linked oligosaccharide biosynthetic process", "id": "GO:0006488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006488", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "segment specification", "id": "GO:0007379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007379", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "dolichyl-phosphate beta-glucosyltransferase activity", "id": "GO:0004581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004581", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VLQ1-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Arg209", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Fails to rescue glycosylation and growth phenotypes in yeast.", "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ1" }, { "database": "PubMed", "id": "18403407", "url": "https://glygen.org/publication/PubMed/18403407" } ] } ] } ], "record_id": "Q9VLQ1-1" }, { "uniprot_canonical_ac": "Q9VLU5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU5", "url": "https://www.uniprot.org/uniprotkb/Q9VLU5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 409, "chemical_mass": 46511.0, "gene_names": "Wwox;CG7221;DmWWOX;Dmel\\CG7221;Dmel_CG7221;WWOX;Wwox;anon-EST:Posey177", "protein_name": "WW domain-containing oxidoreductase", "disease": [ { "disease_id": "DOID:0080060", "name": "autosomal recessive spinocerebellar ataxia 12", "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed 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58265.0, "gene_names": "Cyp4d21;4d21;CG6730;CYP4d21;Cyp4d21;Dmel\\CG6730;cyp4d21;sxe1", "protein_name": "Probable cytochrome P450 4d21", "disease": [ { "disease_id": "DOID:0050664", "name": "Bietti crystalline corneoretinal dystrophy", "description": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0050664", "evidence": [ { "id": "0050664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050664" } ], "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 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"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": "Q9VLZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLZ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VLZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLZ7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VLZ7", "url": "https://www.uniprot.org/uniprotkb/Q9VLZ7" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VLZ7", "url": 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"database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VQS6-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Glu25", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "In drm5; foregut proventriculus morphologically and functionally defective.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" }, { "database": "PubMed", "id": "12117814", "url": "https://glygen.org/publication/PubMed/12117814" } ] } ] }, { "uniprot_canonical_ac": "Q9VQS6-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Glu45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "In drm4; foregut proventriculus morphologically and functionally defective.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" }, { "database": "PubMed", "id": "12117814", "url": "https://glygen.org/publication/PubMed/12117814" } ] } ] }, { "uniprot_canonical_ac": "Q9VQS6-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Arg46", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "In drm6; foregut proventriculus and hindgut morphologically and functionally defective. Abolishes lin binding. Abolishes lin-inhibiting activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" }, { "database": "PubMed", "id": "12117814", "url": "https://glygen.org/publication/PubMed/12117814" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "In drm2; foregut proventriculus morphologically and functionally defective.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" }, { "database": "PubMed", "id": "12117814", "url": "https://glygen.org/publication/PubMed/12117814" } ] } ] }, { "uniprot_canonical_ac": "Q9VQS6-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Cys57", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Reduces lin binding. No effect on lin-inhibiting activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9VQS6", "url": "https://www.uniprot.org/uniprotkb/Q9VQS6" }, { "database": "PubMed", "id": "12117814", "url": "https://glygen.org/publication/PubMed/12117814" } ] } ] } ], "record_id": "Q9VQS6-1" }, { "uniprot_canonical_ac": "Q9VR19-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR19", "url": "https://www.uniprot.org/uniprotkb/Q9VR19" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 379, "chemical_mass": 43008.0, "gene_names": "Elba3;CG15634;Dmel\\CG15634;Elba3;Elba", "protein_name": "Early boundary activity protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VR19", "url": 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"" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VR25", "url": "https://www.uniprot.org/uniprotkb/Q9VR25" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9VR25", "url": "https://www.uniprot.org/uniprotkb/Q9VR25" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VR25-1" }, { "uniprot_canonical_ac": "Q9VR56-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VR56", "url": "https://www.uniprot.org/uniprotkb/Q9VR56" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 36442.0, "gene_names": "Trmt10A;CG14618;Dmel\\CG14618", 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} ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9VR99", "url": "https://www.uniprot.org/uniprotkb/Q9VR99" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "Q9VR99", "url": "https://www.uniprot.org/uniprotkb/Q9VR99" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VR99", "url": "https://www.uniprot.org/uniprotkb/Q9VR99" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9VR99", "url": "https://www.uniprot.org/uniprotkb/Q9VR99" } ], "pmid": "" }, { "name": "catalytic step 2 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"https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 }, { "disease_id": "DOID:7319", "name": "axonal neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:7319", "evidence": [ { "id": "7319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7319" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "aminoacyl-tRNA deacylase activity", "id": "GO:0002161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002161", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ1", 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"url": "https://www.uniprot.org/uniprotkb/Q9VRJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VRJ1-1" }, { "uniprot_canonical_ac": "Q9VRJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VRJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VRJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 423, "chemical_mass": 47884.0, "gene_names": "Fitm2;CG10671;Dmel\\CG10671;FIT2;Fit2;Fitm;i136", "protein_name": "Acyl-coenzyme A diphosphatase FITM2", "disease": [ { "disease_id": "DOID:0081273", "name": "Siddiqi syndrome", "description": "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VS78", "url": "https://www.uniprot.org/uniprotkb/Q9VS78" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VS78-1", "start_pos": "280", "end_pos": "280", "site_lbl": "Ser280", "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": 280, "start_aa": "Ser", "end_pos": 280, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser280", "evidence": [ { "id": "40245499", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40245499" }, { "id": "Q9VS78", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VS78" } ] } ] } ], "record_id": "Q9VS78-1" }, { "uniprot_canonical_ac": "Q9VS79-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS79", "url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 505, "chemical_mass": 57819.0, "gene_names": "Cyp4d8;CG4321", "protein_name": "Cytochrome P450 4d8", "disease": [ { "disease_id": "DOID:0050664", "name": "Bietti crystalline corneoretinal dystrophy", "description": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.", "url": "https://disease-ontology.org/term/DOID:0050664", "evidence": [ { "id": "0050664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050664" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic 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"url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VS79", "url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VS79", "url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "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": "Q9VS79", "url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VS79", "url": "https://www.uniprot.org/uniprotkb/Q9VS79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VS79-1" }, { "uniprot_canonical_ac": "Q9VS97-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 186, "chemical_mass": 20123.0, "gene_names": "PGRP-SD;CG7496;Dm PGRP-SD;Dmel\\CG7496;PGRP-SD;pgrp-sd", "protein_name": "Peptidoglycan-recognition protein SD", "disease": [], "molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" }, { "name": "peptidoglycan immune receptor activity", "id": "GO:0016019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016019", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "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": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "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": "Q9VS97", "url": "https://www.uniprot.org/uniprotkb/Q9VS97" } ], "pmid": "" }, { "name": 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"start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "Q9VS97", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VS97#ptm_processing" } ] } ] } ], "record_id": "Q9VS97-1" }, { "uniprot_canonical_ac": "Q9VSB9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 376, "chemical_mass": 42773.0, "gene_names": "Tmem43;CG8111;Dmel\\CG8111;Tmem43", "protein_name": "Transmembrane protein 43 homolog", "disease": [ { "disease_id": "DOID:0050431", "name": "arrhythmogenic right ventricular cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of 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"evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "pmid": "" }, { "name": "nuclear membrane organization", "id": "GO:0071763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071763", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VSB9-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No detrimental effect on development or survivability with increased lipid droplet size in fat bodies when ubiquitously overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Decreased survivability past pupal stage for both males and females with increased lipid droplet size in fat bodies when ubiquitously overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Decreased survivability past pupal stage with increased lipid droplet size in fat bodies when ubiquitously overexpressed. Females have higher rates of survival than males.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] }, { "sequence_org": "S", "sequence_mut": "L", "comment": "No effect on protein stability, turnover rate or subcellular localization. Larval or pupal lethal with increased lipid droplet size in fat bodies when ubiquitously overexpressed. Larvae show increased levels of fatty acids and branched-chain amino acids. Cardiac arrhythmia and arrest in males when expressed in heart cells.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Larval and pupal lethal with increased lipid droplet size in fat bodies when ubiquitously overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "No detrimental effect on development or survivability with increased lipid droplet size in fat bodies when ubiquitously overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "Q9VSB9", "url": "https://www.uniprot.org/uniprotkb/Q9VSB9" }, { "database": "PubMed", "id": "35869176", "url": "https://glygen.org/publication/PubMed/35869176" } ] } ] } ], "record_id": "Q9VSB9-1" }, { "uniprot_canonical_ac": "Q9VSC1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSC1", "url": "https://www.uniprot.org/uniprotkb/Q9VSC1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 77, "chemical_mass": 8974.0, "gene_names": "Srp9;CG8268;Dmel\\CG8268;SRP9;Srp9", "protein_name": "Signal recognition particle 9 kDa protein", "disease": [], "cellular_component": [ { "name": "signal recognition particle, endoplasmic reticulum targeting", "id": "GO:0005786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005786", "evidence": [ { "database": "UniProtKB", "id": "Q9VSC1", "url": "https://www.uniprot.org/uniprotkb/Q9VSC1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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] } ] }, { "uniprot_canonical_ac": "Q9VVR4-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Asn364", "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": 364, "start_aa": "Asn", "end_pos": 364, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn364", "evidence": [ { "id": "Q9VVR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VVR4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9VVR4-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "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 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"DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050868", "name": "hepatocellular adenoma", "description": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.", "url": "https://disease-ontology.org/term/DOID:0050868", "evidence": [ { "id": "0050868", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050868" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "steroid hydroxylase activity", "id": "GO:0008395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008395", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "ecdysteroid 25-hydroxylase activity", "id": "GO:0035302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035302", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" } ], 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"xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "organic acid metabolic process", "id": "GO:0006082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006082", "evidence": [ { "database": "UniProtKB", "id": "Q9VWR5", "url": "https://www.uniprot.org/uniprotkb/Q9VWR5" } ], "pmid": "" }, { "name": "embryonic development via the syncytial 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regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VYX1", "url": "https://www.uniprot.org/uniprotkb/Q9VYX1" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q9VYX1", "url": "https://www.uniprot.org/uniprotkb/Q9VYX1" } ], "pmid": "" }, { "name": "heterochromatin boundary formation", "id": "GO:0033696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033696", "evidence": [ { "database": "UniProtKB", "id": "Q9VYX1", "url": "https://www.uniprot.org/uniprotkb/Q9VYX1" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin insulator sequence binding", "id": "GO:0043035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043035", "evidence": [ { "database": "UniProtKB", "id": "Q9VYX1", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q9XYF4" } ], "pmid": "" }, { "name": "ectopic germ cell programmed cell death", "id": "GO:0035234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035234", "evidence": [ { "database": "UniProtKB", "id": "Q9XYF4", "url": "https://www.uniprot.org/uniprotkb/Q9XYF4" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "Q9XYF4", "url": "https://www.uniprot.org/uniprotkb/Q9XYF4" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "Q9XYF4", "url": "https://www.uniprot.org/uniprotkb/Q9XYF4" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q9XYF4", "url": 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"", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0B4LIG4-1" }, { "uniprot_canonical_ac": "A0A0C4DHF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF6", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1262, "chemical_mass": 137703.0, "gene_names": "Dg;CG18250;CT41273;DG;Dg;DmDG;Dmel\\CG18250;Dmel_CG18250;alpha-DG;atu;dgn;dg;dys", "protein_name": "Dystroglycan 1", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID:0050559", "name": "Fukuyama congenital muscular dystrophy", "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein.", "url": "https://disease-ontology.org/term/DOID:0050559", "evidence": [ { "id": "0050559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050559" } ], "weight": 0.0 }, { "disease_id": "DOID:0050588", "name": "muscular dystrophy-dystroglycanopathy type B1", "description": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.", "url": 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"evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "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:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dystrophin-associated glycoprotein complex", "id": "GO:0016010", "url": 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[ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:11206", "name": "opioid abuse", "description": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:11206", "evidence": [ { "id": "11206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11206" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 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: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:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "somatostatin receptor activity", "id": "GO:0004994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004994", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuropeptide receptor activity", "id": "GO:0008188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008188", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "allatostatin receptor activity", "id": "GO:0008261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008261", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WMT8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WMT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0S0WMT8-1" }, { "uniprot_canonical_ac": "A0A0S0WNY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0S0WNY8", "url": "https://www.uniprot.org/uniprotkb/A0A0S0WNY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 539, "chemical_mass": 61157.0, "gene_names": "nAChRalpha4;CG12414;CG17552;Dalpha4;Dmel\\CG12414;Dmel_CG12414;alpha4;anon-WO0138359.1;nAChR-alpha80B;nAChRa4;nAChRalpha4;nAChR;nAcRalpha-4;nAcRalpha-80B;nAcRalpha-80;nAcRaplha-80B;redeye;rye", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "weight": 0.0 }, { "disease_id": "DOID:0110678", "name": "congenital myasthenic syndrome 4A", "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110678", "evidence": [ { "id": "0110678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110678" } ], "weight": 0.0 }, { "disease_id": "DOID:0110679", "name": "congenital myasthenic syndrome 4C", "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0110679", "evidence": [ { "id": "0110679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110679" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3635", "name": "congenital myasthenic syndrome", "description": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and 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: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": 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"pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A126GUV0-1" }, { "uniprot_canonical_ac": "A0A126GUV7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A126GUV7", "url": "https://www.uniprot.org/uniprotkb/A0A126GUV7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 707, "chemical_mass": 77951.0, "gene_names": "fray;4624;CG7693;Dmel\\CG7693;Dmel_CG7693;Dosr1;Fray;SPAK;STE20-like/SPAK;dOSR1;dSTRAD;fray;l(3)07551;lag", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0050450", "name": "Gitelman syndrome", "description": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH00", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH00" } ], "pmid": "" }, { "name": "meiotic spindle organization", "id": "GO:0000212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000212", "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH00", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH00" } ], "pmid": "" }, { "name": "distributive segregation", "id": "GO:0032837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032837", "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH00", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH00" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH00", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH00" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Z1CH00-1" }, { "uniprot_canonical_ac": "A0A1Z1CH01-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH01", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH01" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 15, "chemical_mass": 1858.0, "gene_names": "CG1461-5'utr;CG1461-5'utr;CG46317;Dmel\\CG46317;Dmel_CG46317", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Z1CH01-1" }, { "uniprot_canonical_ac": "A0A1Z1CH02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH02", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 19, "chemical_mass": 2150.0, "gene_names": "CG14253-5'utr;CG14253-5'utr;CG46313;Dmel\\CG46313;Dmel_CG46313", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Z1CH02-1" }, { "uniprot_canonical_ac": "A0A1Z1CH22-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A1Z1CH22", "url": "https://www.uniprot.org/uniprotkb/A0A1Z1CH22" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 26, "chemical_mass": 2968.0, "gene_names": "CG7708-5'utr;CG46318;CG7708-5'utr;Dmel\\CG46318;Dmel_CG46318", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A1Z1CH22-1" }, { "uniprot_canonical_ac": "A0A2U8U156-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 312, "chemical_mass": 35214.0, "gene_names": "PIG-C;CG12077;Dmel\\CG12077;Dmel_CG12077;PIG-C;PIGC", "protein_name": "", "disease": [ { "disease_id": "DOID:0081223", "name": "glycosylphosphatidylinositol biosynthesis defect 16", "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0081223", "evidence": [ { "id": "0081223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081223" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex", "id": "GO:0000506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000506", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" } ], "biological_process": [ { "name": "GPI anchor biosynthetic process", "id": "GO:0006506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006506", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" }, { "name": "rhabdomere membrane biogenesis", "id": "GO:0045313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045313", "evidence": [ { "database": "UniProtKB", "id": "A0A2U8U156", "url": "https://www.uniprot.org/uniprotkb/A0A2U8U156" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A2U8U156-1" }, { "uniprot_canonical_ac": "A1Z905-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z905", "url": "https://www.uniprot.org/uniprotkb/A1Z905" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 130, "chemical_mass": 13175.0, "gene_names": "NEST:bs09a11;CG30334;Dmel\\CG30334;Dmel_CG30334;NEST:bs09a11", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z905-1" }, { "uniprot_canonical_ac": "A0A499GGQ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 837, "chemical_mass": 94859.0, "gene_names": "nAChRalpha5;AChRalpha5;BG:DS05899.4;BG:DS05899.5;CG16878;CG32975;CG4498;CT14633;Dalpha5;Dmel\\CG32975;Dmel_CG32975;Nic 34E;anon-WO02059370.44;da5;daf;lincRNA.128;lincRNA.S1055;nAChRalpha-34E;nAChRalpha5;nAChR;nAcR-alpha-34E;nAcRalpha-34E;nAcRalpha-34e", "protein_name": "", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine-gated monoatomic cation-selective channel activity", "id": "GO:0022848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022848", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine binding", "id": "GO:0042166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042166", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "excitatory extracellular ligand-gated monoatomic ion channel activity", "id": "GO:0005231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005231", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "A0A499GGQ3", "url": "https://www.uniprot.org/uniprotkb/A0A499GGQ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A499GGQ3-1" }, { "uniprot_canonical_ac": "A0A499JF18-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A499JF18", "url": "https://www.uniprot.org/uniprotkb/A0A499JF18" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1254, "chemical_mass": 133714.0, "gene_names": "Cph;Bcl11;CG9650;Cph;Dmel\\CG9650;Dmel_CG9650;cph", "protein_name": "", "disease": [ { "disease_id": "DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.", "url": "https://disease-ontology.org/term/DOID:0060038", "evidence": [ { "id": "0060038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological 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"weight": 0.0 } ], "cellular_component": [ { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A1Z7U2", "url": "https://www.uniprot.org/uniprotkb/A1Z7U2" } ], "pmid": "" }, { "name": "outer dynein arm", "id": "GO:0036157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036157", "evidence": [ { "database": "UniProtKB", "id": "A1Z7U2", "url": "https://www.uniprot.org/uniprotkb/A1Z7U2" } ], "pmid": "" } ], "molecular_function": [ { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "A1Z7U2", "url": "https://www.uniprot.org/uniprotkb/A1Z7U2" } ], "pmid": "" }, { "name": "dynein heavy chain binding", "id": "GO:0045504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045504", "evidence": [ { "database": "UniProtKB", "id": "A1Z7U2", "url": "https://www.uniprot.org/uniprotkb/A1Z7U2" } ], "pmid": "" } ], "biological_process": [ { "name": "outer dynein arm assembly", "id": "GO:0036158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "evidence": [ { "database": "UniProtKB", "id": "A1Z7U2", "url": "https://www.uniprot.org/uniprotkb/A1Z7U2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7U2-1" }, { "uniprot_canonical_ac": "A1Z7U5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7U5", "url": "https://www.uniprot.org/uniprotkb/A1Z7U5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 326, "chemical_mass": 39200.0, "gene_names": "Dmel\\CG13955;CG13955;Dmel\\CG13955;Dmel_CG13955", "protein_name": "Trichohyalin-plectin-homology domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7U5-1" }, { "uniprot_canonical_ac": "A1Z7U7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7U7", "url": "https://www.uniprot.org/uniprotkb/A1Z7U7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 20834.0, "gene_names": "Dmel\\CG33758;CG33758;Dmel\\CG33758;Dmel_CG33758", "protein_name": "MD-2-related lipid-recognition domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7U7-1" }, { "uniprot_canonical_ac": "A1Z7Y4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z7Y4", "url": "https://www.uniprot.org/uniprotkb/A1Z7Y4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 322, "chemical_mass": 35478.0, "gene_names": 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"Gr47a;47A.1;47A1;CG12906;Dmel\\CG12906;Dmel_CG12906;GR47A.1;GR47a;Gr47A1;Gr47A;Gr47a", "protein_name": "Gustatory receptor", "disease": [], "biological_process": [ { "name": "male courtship behavior", "id": "GO:0008049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008049", "evidence": [ { "database": "UniProtKB", "id": "A1Z881", "url": "https://www.uniprot.org/uniprotkb/A1Z881" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "A1Z881", "url": "https://www.uniprot.org/uniprotkb/A1Z881" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "A1Z881", "url": "https://www.uniprot.org/uniprotkb/A1Z881" } ], "pmid": "" }, { "name": "chemosensory behavior", "id": "GO:0007635", "url": 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"structural constituent of chitin-based larval cuticle", "id": "GO:0008010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008010", "evidence": [ { "database": "UniProtKB", "id": "A1Z8H5", "url": "https://www.uniprot.org/uniprotkb/A1Z8H5" } ], "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": "A1Z8H5", "url": "https://www.uniprot.org/uniprotkb/A1Z8H5" } ], "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": "A1Z8H5", "url": "https://www.uniprot.org/uniprotkb/A1Z8H5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z8H5-1" }, { "uniprot_canonical_ac": "A1Z8K7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8K7", "url": "https://www.uniprot.org/uniprotkb/A1Z8K7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 239, "chemical_mass": 25691.0, "gene_names": "Tsp47F;CG9033;Dm.Tsp47F;Dmel\\CG9033;Dmel_CG9033;Tsp47F;tsp47F", "protein_name": "Tetraspanin", "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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": 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7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8N0", "url": "https://www.uniprot.org/uniprotkb/A1Z8N0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 180, "chemical_mass": 21365.0, "gene_names": "Dmel\\CG13198;CG13198;Dmel\\CG13198;Dmel_CG13198", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z8N0-1" }, { "uniprot_canonical_ac": "A1Z8P1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z8P1", "url": "https://www.uniprot.org/uniprotkb/A1Z8P1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 21942.0, "gene_names": "Dmel\\CG13193;CG13193;Dmel\\CG13193;Dmel_CG13193", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N7", "url": "https://www.uniprot.org/uniprotkb/A1Z9N7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N7", "url": "https://www.uniprot.org/uniprotkb/A1Z9N7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z9N7-1" }, { "uniprot_canonical_ac": "A1Z9Q9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z9Q9", "url": "https://www.uniprot.org/uniprotkb/A1Z9Q9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 404, "chemical_mass": 45657.0, "gene_names": "Dmel\\CG10104;CG10104;Dmel\\CG10104;Dmel_CG10104", "protein_name": "Peptidase A1 domain-containing protein", "disease": [ { 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microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060835", "evidence": [ { "id": "0060835", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060835" } ], "weight": 0.0 }, { "disease_id": "DOID:0080634", "name": "nanophthalmos", "description": "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.", "url": "https://disease-ontology.org/term/DOID:0080634", "evidence": [ { "id": "0080634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080634" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual 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: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. 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} ] }, { "uniprot_canonical_ac": "A1ZAG9-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Thr83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Thr", "end_pos": 83, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr83", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "A1ZAG9-1" }, { "uniprot_canonical_ac": "A1ZAL5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 42983.0, "gene_names": "Dmel\\CG6472;CG6472;Dmel\\CG6472;Dmel_CG6472", "protein_name": "Lipase domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "A1ZAL5", "url": "https://www.uniprot.org/uniprotkb/A1ZAL5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAL5-1" }, { "uniprot_canonical_ac": "A1ZAM7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAM7", "url": "https://www.uniprot.org/uniprotkb/A1ZAM7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 447, "chemical_mass": 51057.0, "gene_names": "ste24b;CG9001;Dmel\\CG9001;Dmel\\Ste24b;Dmel\\Ste24;Dmel_CG9001;ste24b", "protein_name": "CAAX prenyl protease", "disease": [ { "disease_id": "DOID:0050440", "name": "familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0060762", "name": "restrictive dermopathy", "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.", "url": "https://disease-ontology.org/term/DOID:0060762", "evidence": [ { "id": "0060762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060762" } ], "weight": 0.0 }, { "disease_id": "DOID:0070369", "name": "restrictive dermopathy 1", "description": "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.", "url": "https://disease-ontology.org/term/DOID:0070369", "evidence": [ { "id": "0070369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070369" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081129", "name": "mandibuloacral dysplasia type B lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.", "url": "https://disease-ontology.org/term/DOID:0081129", "evidence": [ { "id": "0081129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081129" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "weight": 0.0 }, { "disease_id": "DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "CAAX-box protein processing", "id": "GO:0071586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071586", "evidence": [ { "database": "UniProtKB", "id": "A1ZAM7", "url": "https://www.uniprot.org/uniprotkb/A1ZAM7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": 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"sites": [], "record_id": "A1ZAM7-1" }, { "uniprot_canonical_ac": "A1ZAR6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 586, "chemical_mass": 67198.0, "gene_names": "Dmel\\CG10950;CG10950;Dmel\\CG10950;Dmel_CG10950", "protein_name": "Exportin-1/Importin-beta-like domain-containing protein", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "A1ZAR6", "url": "https://www.uniprot.org/uniprotkb/A1ZAR6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1ZAR6-1" }, { "uniprot_canonical_ac": "A1ZAX8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAX8", "url": "https://www.uniprot.org/uniprotkb/A1ZAX8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 858, "chemical_mass": 97010.0, "gene_names": "HPS4;CG4966;Dmel\\CG4966;Dmel_CG4966;HPS4;NP_725707;dHPS4", "protein_name": "", "disease": [ { "disease_id": "DOID:0060542", "name": "Hermansky-Pudlak syndrome 4", "description": "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.", "url": "https://disease-ontology.org/term/DOID:0060542", "evidence": [ { "id": "0060542", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "cation-transporting ATPase complex", "id": "GO:0090533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090533", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "plasma membrane protein complex", "id": "GO:0098797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098797", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" }, { "name": "intracellular sodium ion 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"proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "A8QI34", "url": "https://www.uniprot.org/uniprotkb/A8QI34" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8QI34-1" }, { "uniprot_canonical_ac": "A8Y589-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8Y589", "url": "https://www.uniprot.org/uniprotkb/A8Y589" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 178, "chemical_mass": 20766.0, "gene_names": "Alg-2;ALG-2;Alg-2;CG17661;CG40410;DALG-2;Dmel\\CG40410;Dmel_CG40410", "protein_name": "Programmed cell death protein 6", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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"UniProtKB", "id": "A8Y589", "url": "https://www.uniprot.org/uniprotkb/A8Y589" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A8Y589", "url": "https://www.uniprot.org/uniprotkb/A8Y589" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A8Y589-1" }, { "uniprot_canonical_ac": "B7YZH2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZH2", "url": "https://www.uniprot.org/uniprotkb/B7YZH2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 29470.0, "gene_names": "Dmel\\CG42391;CG42391;Dmel\\CG42391;Dmel_CG42391", "protein_name": "LEM-3-like GIY-YIG domain-containing protein", "disease": [], "biological_process": [ { "name": "resolution of meiotic recombination 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"name": "DNA endonuclease activity", "id": "GO:0004520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004520", "evidence": [ { "database": "UniProtKB", "id": "B7YZH2", "url": "https://www.uniprot.org/uniprotkb/B7YZH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZH2-1" }, { "uniprot_canonical_ac": "B7YZJ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZJ3", "url": "https://www.uniprot.org/uniprotkb/B7YZJ3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 69, "chemical_mass": 7921.0, "gene_names": "Dmel\\CG42239;CG42239;Dmel\\CG42239;Dmel_CG42239", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B7YZJ3-1" }, { "uniprot_canonical_ac": "B7YZX2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "B7YZX2", "url": "https://www.uniprot.org/uniprotkb/B7YZX2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 446, "chemical_mass": 50968.0, "gene_names": "Irk3;CG10369;Dmel\\CG10369;Dmel_CG10369;Irk3;dIRK-3;dKirIII;irk3", "protein_name": "", "disease": [ { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "weight": 0.0 }, { "disease_id": "DOID:0060484", "name": "EAST syndrome", "description": "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene 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"GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q86BG1", "url": "https://www.uniprot.org/uniprotkb/Q86BG1" } ], "pmid": "" }, { "name": "protein tyrosine kinase activator activity", "id": "GO:0030296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030296", "evidence": [ { "database": "UniProtKB", "id": "Q86BG1", "url": "https://www.uniprot.org/uniprotkb/Q86BG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q86BG1-1" }, { "uniprot_canonical_ac": "Q9VB53-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VB53", "url": "https://www.uniprot.org/uniprotkb/Q9VB53" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 28844.0, "gene_names": "Dmel\\CG14260;CG14260;Dmel\\CG14260;Dmel_CG14260", "protein_name": "BTB 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[ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "M9MRV7-1", "start_pos": "950", "end_pos": "950", "site_lbl": "Thr950", "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": 950, "start_aa": "Thr", "end_pos": 950, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr950", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "M9MRV7-1" }, { "uniprot_canonical_ac": "M9MS08-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS08", "url": "https://www.uniprot.org/uniprotkb/M9MS08" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 101, "chemical_mass": 11345.0, "gene_names": "Dmel\\CG42714;CG42714;DMG8-chr3L.11.020;Dmel\\CG42714;Dmel_CG42714", "protein_name": "Kazal-like domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MS08-1" }, { "uniprot_canonical_ac": "M9MS11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS11", "url": "https://www.uniprot.org/uniprotkb/M9MS11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 97, "chemical_mass": 11009.0, "gene_names": "Dmel\\CG42716;CG42716;Dmel\\CG42716;Dmel_CG42716", "protein_name": "BPTI/Kunitz inhibitor domain-containing protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "M9MS11", "url": "https://www.uniprot.org/uniprotkb/M9MS11" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "M9MS11", "url": "https://www.uniprot.org/uniprotkb/M9MS11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MS11-1" }, { "uniprot_canonical_ac": "M9MS20-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 271, "chemical_mass": 29695.0, "gene_names": "Jon74E;CG6298;CT19724;Dmel\\CG6298;Dmel_CG6298;Jon74E;SP85", "protein_name": "", "disease": [ { "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 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "M9MS20", "url": "https://www.uniprot.org/uniprotkb/M9MS20" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MS20-1" }, { "uniprot_canonical_ac": "M9MS50-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 869, "chemical_mass": 94051.0, "gene_names": "Srpk79D;BEST:CK01209;CG11489;CG9085;CK01209;Dmel\\CG11489;Dmel_CG11489;SRPK1;SRPK79D;SRPK;Srpk79D;atc;srpk79D;srpk79d", "protein_name": "Serine-arginine protein kinase at 79D", "disease": [], "biological_process": [ { "name": "cytoskeletal matrix organization at active zone", "id": "GO:0048789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048789", "evidence": [ { "database": "UniProtKB", "id": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" } ], "pmid": "" }, { "name": "presynaptic active zone organization", "id": "GO:1990709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990709", "evidence": [ { "database": "UniProtKB", "id": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" } ], "pmid": "" }, { "name": "synaptic assembly at neuromuscular junction", "id": "GO:0051124", "url": 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Prevents phosphorylation, but not binding of substrate protein brp. Can not prevent premature T-bar assembly but is able to colocalize with active zone proteins.", "evidence": [ { "database": "UniProtKB", "id": "M9MS50", "url": "https://www.uniprot.org/uniprotkb/M9MS50" }, { "database": "PubMed", "id": "19771148", "url": "https://glygen.org/publication/PubMed/19771148" }, { "database": "PubMed", "id": "30745339", "url": "https://glygen.org/publication/PubMed/30745339" } ] } ] } ], "record_id": "M9MS50-1" }, { "uniprot_canonical_ac": "M9MS63-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MS63", "url": "https://www.uniprot.org/uniprotkb/M9MS63" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 11694.0, "gene_names": "Dmel\\CG42766;FBgn0261834;CG42766;Dmel\\CG42766;Dmel_CG42766;FBgn0261834", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M9MS63-1" }, { "uniprot_canonical_ac": "Q0KHR2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1918, "chemical_mass": 209666.0, "gene_names": "f;CG12996;CG42864;CG5424;Dmel\\CG42864;Dmel_CG42864;X1;f", "protein_name": "", "disease": [ { "disease_id": "DOID:0110494", "name": "autosomal recessive nonsyndromic deafness 36", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110494", "evidence": [ { "id": "0110494", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110494" } ], "weight": 0.0 } ], "biological_process": [ { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" }, { "name": "chaeta morphogenesis", "id": "GO:0008407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008407", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" }, { "name": "cuticle pattern formation", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q0KHR2", "url": "https://www.uniprot.org/uniprotkb/Q0KHR2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0KHR2-1" }, { "uniprot_canonical_ac": "M9MSF6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MSF6", "url": "https://www.uniprot.org/uniprotkb/M9MSF6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 160, "chemical_mass": 17791.0, "gene_names": "Dmel\\CG42854;CG42854;Dmel\\CG42854;Dmel_CG42854", "protein_name": "DUF4806 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], "pmid": "" }, { "name": "3-oxoacyl-[acyl-carrier-protein] synthase activity", "id": "GO:0004315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004315", "evidence": [ { "database": "UniProtKB", "id": "M9PB21", "url": "https://www.uniprot.org/uniprotkb/M9PB21" } ], "pmid": "" }, { "name": "3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity", "id": "GO:0004316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004316", "evidence": [ { "database": "UniProtKB", "id": "M9PB21", "url": "https://www.uniprot.org/uniprotkb/M9PB21" } ], "pmid": "" }, { "name": "fatty acyl-[ACP] hydrolase activity", "id": "GO:0016297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016297", "evidence": [ { "database": "UniProtKB", "id": "M9PB21", "url": "https://www.uniprot.org/uniprotkb/M9PB21" } ], "pmid": "" }, { "name": "(3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity", "id": "GO:0019171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019171", "evidence": [ { "database": "UniProtKB", 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3033", "name": "colon signet ring adenocarcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3033", "evidence": [ { "id": "3033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3033" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": 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"https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": 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"name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "M9PI08", "url": "https://www.uniprot.org/uniprotkb/M9PI08" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M9PI08-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Thr66", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", 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mutation in the TMEM16F gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111052", "evidence": [ { "id": "0111052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111052" } ], "weight": 0.0 }, { "disease_id": "DOID:0111338", "name": "isolated elevated serum creatine phosphokinase levels", "description": "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.", "url": "https://disease-ontology.org/term/DOID:0111338", "evidence": [ { "id": "0111338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111338" } ], "weight": 0.0 }, { "disease_id": "DOID:0111533", "name": "gnathodiaphyseal dysplasia", "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical 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developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080425", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ], "weight": 0.0 }, { "disease_id": "DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0081372", "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ], "weight": 0.0 }, { "disease_id": "DOID:0111549", "name": "aplasia of lacrimal and salivary glands", "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0111549", "evidence": [ { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" } ], "weight": 0.0 }, { "disease_id": "DOID:0111566", "name": "familial isolated trichomegaly", "description": "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21.", "url": "https://disease-ontology.org/term/DOID:0111566", "evidence": [ { "id": "0111566", "database": "AGR", "url": 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"evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "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: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: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: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: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: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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "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. 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"name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "branching involved in open tracheal system development", "id": "GO:0060446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060446", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "glial cell migration", "id": "GO:0008347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008347", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "primary branching, open tracheal system", "id": "GO:0007428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007428", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "secondary branching, open tracheal system", "id": "GO:0007429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007429", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "positive regulation of melanization defense response", "id": "GO:0035008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035008", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "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": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "branch fusion, open tracheal system", "id": "GO:0035147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035147", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "genital disc development", "id": "GO:0035215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035215", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "cytoneme assembly", "id": "GO:0035231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035231", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "negative regulation of crystal cell differentiation", "id": "GO:0042690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042690", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "negative regulation of plasmatocyte differentiation", "id": "GO:0045614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045614", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": "https://www.uniprot.org/uniprotkb/Q9VDT9" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q9VDT9", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "Q9VDU0", "url": "https://www.uniprot.org/uniprotkb/Q9VDU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VDU0-1" }, { "uniprot_canonical_ac": "Q9VDW0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VDW0", "url": "https://www.uniprot.org/uniprotkb/Q9VDW0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 541, "chemical_mass": 60928.0, "gene_names": "Dmel\\CG7333;CG7333;Dmel\\CG7333;Dmel_CG7333", "protein_name": "Major 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"biomarkers": [], "sites": [], "record_id": "Q9VHH2-1" }, { "uniprot_canonical_ac": "Q9W2B5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2B5", "url": "https://www.uniprot.org/uniprotkb/Q9W2B5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 599, "chemical_mass": 68115.0, "gene_names": "ppk9;CG13489;CG13490;CG34369;Dmel\\CG34369;Dmel_CG34369;ppk9", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2B5", "url": "https://www.uniprot.org/uniprotkb/Q9W2B5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2B5", "url": 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"residue": "Thr", "site_lbl": "Thr378", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W1Z4-1" }, { "uniprot_canonical_ac": "Q9W0X0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0X0", "url": "https://www.uniprot.org/uniprotkb/Q9W0X0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 551, "chemical_mass": 62046.0, "gene_names": "emp;CG2727;Dmel\\CG2727;Dmel_CG2727;Emp;emp", "protein_name": "Scavenger receptor class B member 1", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. 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"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:1388", "name": "Tangier disease", "description": "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.", "url": "https://disease-ontology.org/term/DOID:1388", "evidence": [ { "id": "1388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1388" } ], "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.", 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFV0", "url": "https://www.uniprot.org/uniprotkb/Q9VFV0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 796, "chemical_mass": 91600.0, "gene_names": "Ir87a;87a;CG14376;DmelIR87a;Dmel\\CG14376;Dmel_CG14376;IR87a;Ir87a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9VFV0", "url": "https://www.uniprot.org/uniprotkb/Q9VFV0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VFV0", "url": "https://www.uniprot.org/uniprotkb/Q9VFV0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VFV0", "url": "https://www.uniprot.org/uniprotkb/Q9VFV0" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9VFV0", "url": "https://www.uniprot.org/uniprotkb/Q9VFV0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFV0-1" }, { "uniprot_canonical_ac": "Q9VFV6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFV6", "url": "https://www.uniprot.org/uniprotkb/Q9VFV6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 99, "chemical_mass": 9867.0, "gene_names": "Dmel\\CG14374;CG14374;Dmel\\CG14374;Dmel_CG14374", "protein_name": "Cuticle protein 16.5", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFV6-1" }, { "uniprot_canonical_ac": "Q9VFZ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VFZ4", "url": "https://www.uniprot.org/uniprotkb/Q9VFZ4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 54620.0, "gene_names": "Dmel\\CG7966;CG7966;Dmel\\CG7966;Dmel_CG7966", "protein_name": "Methanethiol oxidase", "disease": [ { "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 } ], "molecular_function": [ { "name": "selenium binding", "id": "GO:0008430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008430", "evidence": [ { "database": "UniProtKB", "id": "Q9VFZ4", "url": "https://www.uniprot.org/uniprotkb/Q9VFZ4" } ], "pmid": "" }, { "name": "methanethiol oxidase activity", "id": "GO:0018549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018549", "evidence": [ { "database": "UniProtKB", "id": "Q9VFZ4", "url": "https://www.uniprot.org/uniprotkb/Q9VFZ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VFZ4-1" }, { "uniprot_canonical_ac": "Q9VGA8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGA8", "url": "https://www.uniprot.org/uniprotkb/Q9VGA8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 588, "chemical_mass": 63663.0, "gene_names": "Dmel\\CG4066;CG4066;Dmel\\CG4066;Dmel_CG4066", "protein_name": "", "disease": [], "biological_process": [ { "name": "chorion-containing eggshell formation", "id": "GO:0007304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007304", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA8", "url": "https://www.uniprot.org/uniprotkb/Q9VGA8" } ], "pmid": "" } ], "cellular_component": [ { "name": "egg chorion", "id": "GO:0042600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042600", "evidence": [ { "database": "UniProtKB", "id": "Q9VGA8", "url": "https://www.uniprot.org/uniprotkb/Q9VGA8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGA8-1" }, { "uniprot_canonical_ac": "Q9VGW0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 269, "chemical_mass": 29866.0, "gene_names": "Dmel\\CG4565;CG4565;Dmel\\CG4565;Dmel_CG4565", "protein_name": "Histone-lysine N-methyltransferase SETMAR", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" }, { "name": "histone H3K36 methyltransferase activity", "id": "GO:0046975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046975", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" }, { "name": "histone H3K36 dimethyltransferase activity", "id": "GO:0140954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140954", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q9VGW0", "url": "https://www.uniprot.org/uniprotkb/Q9VGW0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VGW0-1" }, { "uniprot_canonical_ac": "Q9VH33-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 168, "chemical_mass": 18535.0, "gene_names": "Npc2e;CG31410;CG3928;Dmel\\CG31410;Dmel_CG31410;Npc2e;npc2e", "protein_name": "", "disease": [], "molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "sterol binding", "id": "GO:0032934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032934", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "lipid antigen binding", "id": "GO:0030882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030882", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "Q9VH33", "url": "https://www.uniprot.org/uniprotkb/Q9VH33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH33-1" }, { "uniprot_canonical_ac": "Q9VH46-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH46", "url": "https://www.uniprot.org/uniprotkb/Q9VH46" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 640, "chemical_mass": 71572.0, "gene_names": "Spn85F;CG12807;Dmel\\CG12807;Dmel_CG12807;Spn85F", "protein_name": "", "disease": [ { "disease_id": "DOID:0050117", "name": "disease by infectious agent", "description": "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.", "url": "https://disease-ontology.org/term/DOID:0050117", "evidence": [ { "id": "0050117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050117" } ], "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:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:0110350", "name": "osteogenesis imperfecta type 6", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.", "url": "https://disease-ontology.org/term/DOID:0110350", "evidence": [ { "id": "0110350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110350" } ], "weight": 0.0 }, { "disease_id": "DOID:0111901", "name": "heparin cofactor II deficiency", "description": "A thrombophilia characterized by increased risk of thromboembolism that 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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:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "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: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: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:13514", "name": "venous tributary occlusion of retina", "description": "", "url": "https://disease-ontology.org/term/DOID:13514", "evidence": [ { "id": "13514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13514" } ], "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: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: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: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "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:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VH46", "url": "https://www.uniprot.org/uniprotkb/Q9VH46" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q9VH46", "url": "https://www.uniprot.org/uniprotkb/Q9VH46" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VH46-1" }, { "uniprot_canonical_ac": "Q9VH85-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VH85", "url": "https://www.uniprot.org/uniprotkb/Q9VH85" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 939, "chemical_mass": 102837.0, "gene_names": "side-VII;12950;CG12950;CT32101;Dmel\\CG12950;Dmel_CG12950;side-VII", "protein_name": "", "disease": [], "biological_process": [ { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9VH85", "url": "https://www.uniprot.org/uniprotkb/Q9VH85" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9VH85", "url": "https://www.uniprot.org/uniprotkb/Q9VH85" } ], "pmid": "" } ], "molecular_function": [ { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", "id": "Q9VH85", "url": "https://www.uniprot.org/uniprotkb/Q9VH85" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VH85-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Thr176", "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": 176, "start_aa": "Thr", "end_pos": 176, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr176", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9VH85-1" }, { "uniprot_canonical_ac": "Q9VHL4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHL4", "url": "https://www.uniprot.org/uniprotkb/Q9VHL4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 605, "chemical_mass": 70338.0, "gene_names": "Ir85a;85a;CG11775;CT32618;DmelIR85a;Dmel\\CG11775;Dmel_CG11775;IR85a;Ir85a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9VHL4", "url": "https://www.uniprot.org/uniprotkb/Q9VHL4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VHL4", "url": "https://www.uniprot.org/uniprotkb/Q9VHL4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VHL4", "url": "https://www.uniprot.org/uniprotkb/Q9VHL4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9VHL4", "url": "https://www.uniprot.org/uniprotkb/Q9VHL4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHL4-1" }, { "uniprot_canonical_ac": "Q9VHZ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VHZ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 358, "chemical_mass": 40145.0, "gene_names": "Dmel\\CG18268;CG18268;Dmel\\CG18268;Dmel_CG18268", "protein_name": "Arrestin-like N-terminal domain-containing protein", "disease": [], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9VHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VHZ8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9VHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VHZ8" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VHZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VHZ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VHZ8-1" }, { "uniprot_canonical_ac": "Q9VI72-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VI72", "url": "https://www.uniprot.org/uniprotkb/Q9VI72" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 901, "chemical_mass": 103283.0, "gene_names": "Sas-4;CENPJ;CG10061;CPAP;D-Sas4;D-sas4;DSAS-4;DSas-4;DSas4;DmSas4;Dmel\\CG10061;Dmel_CG10061;Dsas-4;Dsas4;SAS-4;SAS4;Sas-4;Sas4;d-SAS-4;dCPAP;dsas-4;l(3)S2214;l(3)s2214;sas-4;sas4", "protein_name": "", "disease": [ { "disease_id": "DOID:0050569", "name": "Seckel syndrome", "description": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:0050569", "evidence": [ { "id": "0050569", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050569" } ], "weight": 0.0 }, { "disease_id": "DOID:0070010", "name": "Seckel syndrome 4", "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.", "url": "https://disease-ontology.org/term/DOID:0070010", "evidence": [ { "id": "0070010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070010" } ], "weight": 0.0 }, { "disease_id": "DOID:0070290", "name": "primary autosomal recessive microcephaly 6", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12.", "url": "https://disease-ontology.org/term/DOID:0070290", "evidence": [ { "id": "0070290", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070290" } ], "weight": 0.0 }, { "disease_id": "DOID:0070296", "name": "autosomal recessive primary microcephaly", "description": "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.", "url": "https://disease-ontology.org/term/DOID:0070296", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 } ], "biological_process": [ { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q9VI72", "url": "https://www.uniprot.org/uniprotkb/Q9VI72" } ], "pmid": "" }, { "name": "protein localization to pericentriolar material", "id": "GO:1905793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905793", "evidence": [ { "database": "UniProtKB", "id": "Q9VI72", "url": "https://www.uniprot.org/uniprotkb/Q9VI72" } ], "pmid": "" }, { "name": "cilium 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"https://www.uniprot.org/uniprotkb/Q9VK10" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VK10", "url": "https://www.uniprot.org/uniprotkb/Q9VK10" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VK10", "url": "https://www.uniprot.org/uniprotkb/Q9VK10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VK10-1" }, { "uniprot_canonical_ac": "Q9VK15-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK15", "url": "https://www.uniprot.org/uniprotkb/Q9VK15" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 192, "chemical_mass": 22571.0, "gene_names": "DM27;CG16815;DM27;Dmel\\CG16815;Dmel_CG16815", "protein_name": "Protein Mabiki", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VK15-1" }, { "uniprot_canonical_ac": "Q9VK52-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK52", "url": "https://www.uniprot.org/uniprotkb/Q9VK52" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1114, "chemical_mass": 127704.0, "gene_names": "ACXB;AC34A;ACXB;AC;Ac34A;CG17174;DACXB;Dmel\\CG17174;Dmel_CG17174", "protein_name": "adenylate cyclase", "disease": [ { "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": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "Q9VK52", "url": "https://www.uniprot.org/uniprotkb/Q9VK52" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VK67", "url": "https://www.uniprot.org/uniprotkb/Q9VK67" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 229, "chemical_mass": 25395.0, "gene_names": "IFT43;CG5780;Dmel\\CG5780;Dmel_CG5780;IFT43", "protein_name": "", "disease": [ { "disease_id": "DOID:0080292", "name": "retinitis pigmentosa 81", "description": "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.", "url": "https://disease-ontology.org/term/DOID:0080292", "evidence": [ { "id": "0080292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080292" } ], "weight": 0.0 }, { "disease_id": "DOID:0080293", "name": "short-rib thoracic dysplasia 18 with polydactyly", "description": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on 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"evidence": [ { "database": "UniProtKB", "id": "Q9VKR5", "url": "https://www.uniprot.org/uniprotkb/Q9VKR5" } ], "pmid": "" }, { "name": "hydrolase activity, acting on ester bonds", "id": "GO:0016788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016788", "evidence": [ { "database": "UniProtKB", "id": "Q9VKR5", "url": "https://www.uniprot.org/uniprotkb/Q9VKR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKR5-1" }, { "uniprot_canonical_ac": "Q9VKV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 317, "chemical_mass": 34869.0, "gene_names": "MAP1B;CG5188;Dmel\\CG5188;Dmel_CG5188;MAP1B", "protein_name": "Methionine aminopeptidase", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" }, { "name": "metalloaminopeptidase activity", "id": "GO:0070006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" }, { "name": "initiator methionyl aminopeptidase activity", "id": "GO:0004239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004239", "evidence": [ { "database": "UniProtKB", "id": "Q9VKV9", "url": "https://www.uniprot.org/uniprotkb/Q9VKV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VKV9-1" }, { "uniprot_canonical_ac": "Q9VL65-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL65", "url": "https://www.uniprot.org/uniprotkb/Q9VL65" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 566, "chemical_mass": 66615.0, "gene_names": "TbCMF46;CG13125;CT32363;Dmel\\CG13125;Dmel_CG13125;TbCMF46;mel CG13125", "protein_name": "Dynein axonemal assembly factor 1 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL65-1" }, { "uniprot_canonical_ac": "Q9VL88-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 553, "chemical_mass": 63716.0, "gene_names": "ppk18;CG13120;CG13121;CG44152;Dmel\\CG44152;Dmel_CG44152;Ppk18;ppk18", "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": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium channel activity", "id": "GO:0005272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "evidence": [ { "database": "UniProtKB", "id": "Q9VL88", "url": "https://www.uniprot.org/uniprotkb/Q9VL88" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VL88-1" }, { "uniprot_canonical_ac": "Q9VLJ1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLJ1", "url": "https://www.uniprot.org/uniprotkb/Q9VLJ1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 674, "chemical_mass": 74073.0, "gene_names": "Dmel\\CG9289;CG9289;CT26467;Dmel\\CG9289;Dmel_CG9289", "protein_name": "Carboxylesterase type B domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLJ1-1" }, { "uniprot_canonical_ac": "Q9VLU1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 389, "chemical_mass": 43366.0, "gene_names": "Dmel\\CG7367;CG7367;Dmel\\CG7367;Dmel_CG7367;TL", "protein_name": "Lipase domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipase activity", "id": "GO:0016298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016298", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q9VLU1", "url": "https://www.uniprot.org/uniprotkb/Q9VLU1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VLU1-1" }, { "uniprot_canonical_ac": "Q9VM25-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM25", "url": "https://www.uniprot.org/uniprotkb/Q9VM25" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 54907.0, "gene_names": "Wnt10;CG4971;D-Wnt-10;DWnt-10;DWnt10;Dm DWnt10;Dmel\\CG4971;Dmel_CG4971;Dwnt-10;Dwnt10;Wnt10;wnt10", "protein_name": "Protein Wnt", "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:0090026", "name": "split hand-foot malformation 6", "description": "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0090026", "evidence": [ { "id": "0090026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090026" } ], "weight": 0.0 }, { "disease_id": "DOID:0111647", "name": "Schopf-Schulz-Passarge syndrome", "description": "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:0111647", "evidence": [ { "id": "0111647", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111647" } ], "weight": 0.0 }, { "disease_id": "DOID:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more 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"pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VM44", "url": "https://www.uniprot.org/uniprotkb/Q9VM44" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VM44-1" }, { "uniprot_canonical_ac": "Q9VM45-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VM45", "url": "https://www.uniprot.org/uniprotkb/Q9VM45" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 395, "chemical_mass": 45699.0, "gene_names": "Nuf2;CG8902;Dmel\\CG8902;Dmel_CG8902;Nuf2;anon-WO0118547.214;dmNuf2;l(2)SH2 2276", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Ndc80 complex", "id": "GO:0031262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031262", 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9VSZ4-1" }, { "uniprot_canonical_ac": "Q9VT02-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT02", "url": "https://www.uniprot.org/uniprotkb/Q9VT02" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 173, "chemical_mass": 19785.0, "gene_names": "CG3426;CG32036;CG3426;Dmel\\CG32036;Dmel_CG32036", "protein_name": "Chitin-binding type-2 domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VT02", "url": "https://www.uniprot.org/uniprotkb/Q9VT02" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:0060971", "name": "interstitial lung disease 2", "description": "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:0060971", "evidence": [ { "id": "0060971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060971" } ], "weight": 0.0 }, { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0110474", "name": "autosomal recessive nonsyndromic deafness 18B", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0110474", "evidence": [ { "id": "0110474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110474" } ], "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: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: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: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: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: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: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: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: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: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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "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: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:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "weight": 0.0 }, { "disease_id": "DOID:8463", "name": "corneal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:8463", "evidence": [ { "id": "8463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ], "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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q9VU94", "url": "https://www.uniprot.org/uniprotkb/Q9VU94" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": 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[7227]" } ], "length": 648, "chemical_mass": 75837.0, "gene_names": "Dmel\\CG9168;CG9168;Dmel_CG9168;gi23092768", "protein_name": "DUF229 domain containing protein", "disease": [], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F7", "url": "https://www.uniprot.org/uniprotkb/Q9W0F7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W0F7", "url": "https://www.uniprot.org/uniprotkb/Q9W0F7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0F7-1" }, { "uniprot_canonical_ac": "Q9W0H6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0H6", "url": "https://www.uniprot.org/uniprotkb/Q9W0H6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 392, "chemical_mass": 41162.0, "gene_names": "Acat2;ACAA1;ACAT2;ACAT;Acat2;CG9149;Dmel\\CG9149;Dmel_CG9149", "protein_name": "", "disease": [ { "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W0H6", "url": "https://www.uniprot.org/uniprotkb/Q9W0H6" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetyl-CoA C-acetyltransferase activity", "id": "GO:0003985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003985", "evidence": [ { "database": "UniProtKB", "id": "Q9W0H6", "url": "https://www.uniprot.org/uniprotkb/Q9W0H6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0H6-1" }, { "uniprot_canonical_ac": "Q9W0T6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0T6", "url": "https://www.uniprot.org/uniprotkb/Q9W0T6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 108, "chemical_mass": 11916.0, "gene_names": "Dmel\\CG13877;CG13877;Dmel\\CG13877;Dmel_CG13877", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0T6-1" }, { "uniprot_canonical_ac": "Q9W0T9-1", "species": [ { "name": "Drosophila 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"url": "https://www.uniprot.org/uniprotkb/Q9W0U6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W0U6-1" }, { "uniprot_canonical_ac": "Q9W112-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W112", "url": "https://www.uniprot.org/uniprotkb/Q9W112" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 322, "chemical_mass": 35531.0, "gene_names": "Dmel\\CG3894;CG3894;CG9197;Dmel\\CG3894;Dmel_CG3894", "protein_name": "Neuralized-like protein 2", "disease": [], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9W112", "url": "https://www.uniprot.org/uniprotkb/Q9W112" } ], "pmid": "" }, { "name": "myofibril assembly", "id": "GO:0030239", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q9W173", "url": "https://www.uniprot.org/uniprotkb/Q9W173" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W173-1" }, { "uniprot_canonical_ac": "Q9W1J0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1J0", "url": "https://www.uniprot.org/uniprotkb/Q9W1J0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1188, "chemical_mass": 122429.0, "gene_names": "GlyT;CG5549;Dmel\\CG5549;Dmel_CG5549;GlyT;dGlyT", "protein_name": "Transporter", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": 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"evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W1J0-1" }, { "uniprot_canonical_ac": "Q9W1J6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1J6", "url": "https://www.uniprot.org/uniprotkb/Q9W1J6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 176, "chemical_mass": 20482.0, "gene_names": "Dmel\\CG13561;CG13561;Dmel\\CG13561;Dmel_CG13561", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1J6-1" }, { "uniprot_canonical_ac": "Q9W1J7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 157, "chemical_mass": 18544.0, "gene_names": "Dmel\\CG15800;CG15800;Dmel\\CG15800;Dmel_CG15800;SkpG", "protein_name": "SKP1 component POZ domain-containing protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "molecular_function": [ { "name": "cullin family protein binding", "id": "GO:0097602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097602", "evidence": [ { "database": "UniProtKB", "id": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9W1J7", "url": "https://www.uniprot.org/uniprotkb/Q9W1J7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1J7-1" }, { "uniprot_canonical_ac": "Q9W1U0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1U0", "url": "https://www.uniprot.org/uniprotkb/Q9W1U0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 9898.0, "gene_names": "Dmel\\CG13545;CG13545;Dmel\\CG13545;Dmel_CG13545", "protein_name": "Cuticle protein 16.5", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W1U0-1" }, { "uniprot_canonical_ac": "Q9W2C9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 511, "chemical_mass": 57908.0, "gene_names": "Loxl2;CG4402;Dmel\\CG4402;Dmel_CG4402;Dmloxl-2;LOX;Loxl2;dmlox-2;lox2", "protein_name": "", "disease": [ { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "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: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:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": "https://www.uniprot.org/uniprotkb/Q9W2C9" } ], "pmid": "" } ], "molecular_function": [ { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q9W2C9", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0000828", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "inositol hexakisphosphate 5-kinase activity", "id": "GO:0000832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000832", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "biological_process": [ { "name": "phosphatidylinositol phosphate biosynthetic process", "id": "GO:0046854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046854", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" }, { "name": "inositol phosphate biosynthetic process", "id": "GO:0032958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032958", "evidence": [ { "database": "UniProtKB", "id": "Q9W2E9", "url": "https://www.uniprot.org/uniprotkb/Q9W2E9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9W2E9-1", "start_pos": "687", "end_pos": "687", "site_lbl": "Thr687", "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": 687, "start_aa": "Thr", "end_pos": 687, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr687", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "Q9W2E9-1" }, { "uniprot_canonical_ac": "Q9W2M5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 368, "chemical_mass": 40778.0, "gene_names": "Cht9;CG10531;Cht9;Cht;DmCHT9;DmCht9;Dmel\\CG10531;Dmel_CG10531;cht9", "protein_name": "", "disease": [ { "disease_id": "DOID:0050073", "name": 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Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12053", "name": "cryptococcosis", "description": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.", "url": "https://disease-ontology.org/term/DOID:12053", "evidence": [ { "id": "12053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12053" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "ecdysis, chitin-based cuticle", "id": "GO:0018990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018990", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "molecular_function": [ { "name": "chitinase activity", "id": "GO:0004568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004568", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "endochitinase activity", "id": "GO:0008843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008843", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" }, { "name": "chitin binding", "id": "GO:0008061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008061", "evidence": [ { "database": "UniProtKB", "id": "Q9W2M5", "url": "https://www.uniprot.org/uniprotkb/Q9W2M5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2M5-1" }, { "uniprot_canonical_ac": "Q9W2Q2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 332, "chemical_mass": 37623.0, "gene_names": "CAH15;CAH15;CG9235;Dmel\\CG9235;Dmel_CG9235", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "Q9W2Q2", "url": "https://www.uniprot.org/uniprotkb/Q9W2Q2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W2Q2-1" }, { "uniprot_canonical_ac": "Q9W2R9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 638, "chemical_mass": 72161.0, "gene_names": "Rph;CG11556;Dmel\\CG11556;Dmel_CG11556;Rph3A;Rph;rph", "protein_name": "", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "positive regulation of calcium ion-dependent exocytosis", "id": "GO:0045956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045956", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "calcium-dependent activation of synaptic vesicle fusion", "id": "GO:0099502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099502", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q9W2R9", "url": "https://www.uniprot.org/uniprotkb/Q9W2R9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W371", "url": "https://www.uniprot.org/uniprotkb/Q9W371" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 162, "chemical_mass": 18069.0, "gene_names": "Dmel\\CG15368;CG15368;Dmel\\CG15368;Dmel_CG15368", "protein_name": "AN1-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": "Q9W371", "url": "https://www.uniprot.org/uniprotkb/Q9W371" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W371-1" }, { "uniprot_canonical_ac": "Q9W394-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], 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"Q9W394", "url": "https://www.uniprot.org/uniprotkb/Q9W394" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W394-1" }, { "uniprot_canonical_ac": "Q9W3E8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3E8", "url": "https://www.uniprot.org/uniprotkb/Q9W3E8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 500, "chemical_mass": 56095.0, "gene_names": "Cp7Fb;B;CG15350;Cp7Fb;C;Dmel\\CG15350;Dmel_CG15350;cp7Fb", "protein_name": "", "disease": [], "molecular_function": [ { "name": "structural constituent of egg chorion", "id": "GO:0005213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005213", "evidence": [ { "database": "UniProtKB", "id": "Q9W3E8", "url": "https://www.uniprot.org/uniprotkb/Q9W3E8" } ], "pmid": "" } ], "biological_process": [ { "name": "chorion-containing eggshell formation", 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"protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "ligand-gated monoatomic ion channel activity", "id": "GO:0015276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015276", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P4", "url": "https://www.uniprot.org/uniprotkb/Q9W3P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W3P4-1" }, { "uniprot_canonical_ac": "Q9W3P8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3P8", "url": "https://www.uniprot.org/uniprotkb/Q9W3P8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 614, "chemical_mass": 70467.0, "gene_names": "Ir7a;7a;CG12663;DmelIR7a;Dmel\\CG12663;Dmel_CG12663;IR7a;Ir7a", "protein_name": "", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus", "id": "GO:0009593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009593", "evidence": [ { "database": "UniProtKB", "id": "Q9W3P8", "url": "https://www.uniprot.org/uniprotkb/Q9W3P8" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": 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"" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9W4J7", "url": "https://www.uniprot.org/uniprotkb/Q9W4J7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9W4J7", "url": "https://www.uniprot.org/uniprotkb/Q9W4J7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9W4J7-1" }, { "uniprot_canonical_ac": "Q9W4M3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W4M3", "url": "https://www.uniprot.org/uniprotkb/Q9W4M3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 201, "chemical_mass": 23897.0, "gene_names": "Femcoat;CG15573;Dmel\\CG15573;Dmel_CG15573;Femcoat;femcoat", 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1799, "chemical_mass": 203732.0, "gene_names": "rsh;CG15720;CG18646;CG42628;CG42629;CG4346;CG4368;CG44424;Dmel\\CG44424;Dmel_CG44424;FBpp0073550;R5_X:12971309..12973132;Rad;Rsh;rad;rsh", "protein_name": "", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "X2JDH0", "url": "https://www.uniprot.org/uniprotkb/X2JDH0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", 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"name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "POZ domain binding", "id": "GO:0031208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031208", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "transcription repressor 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} ], "pmid": "" }, { "name": "regulation of embryonic cell shape", "id": "GO:0016476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016476", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "tracheal outgrowth, open tracheal system", "id": "GO:0007426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007426", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "dorsal trunk growth, open tracheal system", "id": "GO:0035001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035001", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": 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"P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of compound eye cone cell fate specification", "id": "GO:0042682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042682", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "R7 cell development", "id": "GO:0045467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045467", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "R1/R6 development", "id": "GO:0048053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048053", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "myoblast fate specification", "id": "GO:0048626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048626", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "compound eye corneal lens morphogenesis", "id": "GO:0048750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048750", "evidence": [ { "database": "UniProtKB", "id": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "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": "P42282", "url": "https://www.uniprot.org/uniprotkb/P42282" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", 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"id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "A1Z7K9", "url": "https://www.uniprot.org/uniprotkb/A1Z7K9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A1Z7K9-1" }, { "uniprot_canonical_ac": "P11612-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P11612", "url": "https://www.uniprot.org/uniprotkb/P11612" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 314, "chemical_mass": 35980.0, "gene_names": "PpY-55A;CG10930;D19;DmPpY-55A;Dmel\\CG10930;Dmel_CG10930;PPY 55A;PPY;PpD19;PpY-55A", "protein_name": "Serine/threonine-protein phosphatase PP-Y", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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"taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P08841", "url": "https://www.uniprot.org/uniprotkb/P08841" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 454, "chemical_mass": 50849.0, "gene_names": "betaTub60D;143391_i_at;3t;B3t;BETA 60D;CG3401;D.m.BETA-60D;DTB3;Dmbeta3;Dmel\\CG3401;Dmel_CG3401;Pin;Tac;Tub2E;Tub60D;TubB60C;Tub;T;beta-Tub60D;beta-Tub6D;beta-tub;beta3 TU;beta3-Tub;beta3-tubulin;beta3TUB;beta3Tub60D;beta3Tub;beta3tub;beta3t;beta3;beta60C;betaTub3;betaTub60C;betaTub60D;betaTub;beta[[3]] tubulin;beta[[3]]-Tub;beta[[3]]-tubulin;betatub60D;betatubulin;p50/tubulin;p50;p53/tubulin;p53;tubulin", "protein_name": "Tubulin beta-3 chain", "disease": [ { "disease_id": "DOID:0050997", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome", "description": "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed 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"evidence": [ { "database": "UniProtKB", "id": "O02194", "url": "https://www.uniprot.org/uniprotkb/O02194" } ], "pmid": "" }, { "name": "copper ion import", "id": "GO:0015677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015677", "evidence": [ { "database": "UniProtKB", "id": "O02194", "url": "https://www.uniprot.org/uniprotkb/O02194" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "O02194", "url": "https://www.uniprot.org/uniprotkb/O02194" } ], "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": "O02194", "url": "https://www.uniprot.org/uniprotkb/O02194" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", 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