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bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:14213", "evidence": [ { "id": "14213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14213" } ], "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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly 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"steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "alkaline phosphatase activity", "id": "GO:0004035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004035", "evidence": [ { "database": "UniProtKB", "id": "Q9VHD0", "url": "https://www.uniprot.org/uniprotkb/Q9VHD0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9VHD0", "url": "https://www.uniprot.org/uniprotkb/Q9VHD0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", 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"id": "Q9VHD0", "url": "https://www.uniprot.org/uniprotkb/Q9VHD0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.10" }, { "uniprot_canonical_ac": "Q9VHG3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 268, "chemical_mass": 28638.0, "gene_names": "sage;CG12952;Dmel\\CG12952;Dmel_CG12952;Sage;bHLHc7;sage", "protein_name": "", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": "https://www.uniprot.org/uniprotkb/Q9VHG3" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9VHG3", "url": 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"start_pos": 9, "start_aa": "Thr", "end_pos": 9, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr9", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.10" }, { "uniprot_canonical_ac": "Q9VHP3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHP3", "url": "https://www.uniprot.org/uniprotkb/Q9VHP3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 91, "chemical_mass": 10280.0, "gene_names": "SLIRP2;CG8021;DmSLIRP2;Dmel\\CG8021;Dmel_CG8021;SLIRP2;cg8021", "protein_name": "", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q9VHP3", "url": "https://www.uniprot.org/uniprotkb/Q9VHP3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VHP3", "url": "https://www.uniprot.org/uniprotkb/Q9VHP3" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VHP3", "url": "https://www.uniprot.org/uniprotkb/Q9VHP3" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of mitochondrial translation", "id": "GO:0070129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070129", "evidence": [ { "database": "UniProtKB", "id": "Q9VHP3", "url": "https://www.uniprot.org/uniprotkb/Q9VHP3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VHQ4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"" }, { "name": "Rab protein signal transduction", "id": "GO:0032482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032482", "evidence": [ { "database": "UniProtKB", "id": "Q9VIW6", "url": "https://www.uniprot.org/uniprotkb/Q9VIW6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VIX4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIX4", "url": "https://www.uniprot.org/uniprotkb/Q9VIX4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 693, "chemical_mass": 77294.0, "gene_names": "Dmel\\CG17544;CG17544;Dmel\\CG17544;Dmel_CG17544", "protein_name": "Acyl-coenzyme A oxidase", "disease": [], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": 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protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9VIX9", "url": "https://www.uniprot.org/uniprotkb/Q9VIX9" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q9VIX9", "url": "https://www.uniprot.org/uniprotkb/Q9VIX9" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "Q9VIX9", "url": "https://www.uniprot.org/uniprotkb/Q9VIX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VIZ3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIZ3", "url": 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characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid 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"https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9VJX7", "url": "https://www.uniprot.org/uniprotkb/Q9VJX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VJY4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 627, "chemical_mass": 72781.0, "gene_names": "Dmel\\CG10859;CG10859;Dmel\\CG10859;Dmel_CG10859", "protein_name": "Dynein intermediate chain 3, ciliary", "disease": [ { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "weight": 0.0 }, { "disease_id": "DOID:0110622", "name": "primary ciliary dyskinesia 9", "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the 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"https://www.ebi.ac.uk/QuickGO/term/GO:0036157", "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "pmid": "" } ], "biological_process": [ { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "pmid": "" }, { "name": "outer dynein arm assembly", "id": "GO:0036158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036158", "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "pmid": "" } ], "molecular_function": [ { "name": "dynein light chain binding", "id": "GO:0045503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045503", "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "pmid": "" }, { "name": "dynein heavy chain binding", "id": "GO:0045504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045504", "evidence": [ { "database": "UniProtKB", "id": "Q9VJY4", "url": "https://www.uniprot.org/uniprotkb/Q9VJY4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VJY8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJY8", "url": "https://www.uniprot.org/uniprotkb/Q9VJY8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 285, "chemical_mass": 32080.0, "gene_names": "Ing5;CG9293;Dmel\\CG9293;Ing5", "protein_name": "Inhibitor of growth protein 5", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": 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"Q9VJY8", "url": "https://www.uniprot.org/uniprotkb/Q9VJY8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VJZ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VJZ2", "url": "https://www.uniprot.org/uniprotkb/Q9VJZ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 425, "chemical_mass": 50047.0, "gene_names": "Stard7;CG6565;Dmel\\CG6565;Dmel_CG6565", "protein_name": "START domain-containing protein", "disease": [ { "disease_id": "DOID:0111692", "name": "familial adult myoclonic epilepsy 2", "description": "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that 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"url": "https://www.uniprot.org/uniprotkb/Q9VKR9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 127, "chemical_mass": 11014.0, "gene_names": "BcDNA:RE28280;BcDNA:RE28280;CG7294;Dmel\\CG7294;Dmel_CG7294", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VL11-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VL11", "url": "https://www.uniprot.org/uniprotkb/Q9VL11" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 246, "chemical_mass": 27652.0, "gene_names": "Dmel\\CG4957;CG4957;Dmel\\CG4957;Dmel_CG4957", "protein_name": "Transcriptional regulatory protein", "disease": [ { "disease_id": "DOID:0070495", "name": "mitochondrial complex IV deficiency nuclear 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fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 431, "chemical_mass": 48528.0, "gene_names": "Bcs1;Bcs1;CG4908;Dmel\\CG4908;Dmel_CG4908", "protein_name": "Mitochondrial chaperone BCS1", "disease": [ { "disease_id": "DOID:0050677", "name": "Bjornstad syndrome", "description": "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:0050677", "evidence": [ { "id": "0050677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050677" } ], "weight": 0.0 }, { "disease_id": "DOID:0080111", "name": "mitochondrial complex III deficiency nuclear type 1", "description": "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and 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Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9VLP2" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VLP6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLP6", "url": "https://www.uniprot.org/uniprotkb/Q9VLP6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 364, "chemical_mass": 42014.0, "gene_names": "Dmel\\CG7810;CG7810;Dmel\\CG7810;Dmel_CG7810", "protein_name": "CCD97-like C-terminal domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VLQ6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VLQ6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit 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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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 } ], "biological_process": [ { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS4", "url": "https://www.uniprot.org/uniprotkb/Q9VLS4" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS4", "url": "https://www.uniprot.org/uniprotkb/Q9VLS4" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty-acyl-CoA binding", "id": "GO:0000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000062", "evidence": [ { "database": "UniProtKB", "id": "Q9VLS4", "url": "https://www.uniprot.org/uniprotkb/Q9VLS4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VLV9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 140, "chemical_mass": 15404.0, "gene_names": "Proc;CG7105;Dmel\\CG7105;Dmel_CG7105;PROCT;PROC;Prct;Proct;Proc;proct;proc", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" } ], "biological_process": [ { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" }, { "name": "proctolin receptor binding", "id": "GO:0071860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071860", "evidence": [ { "database": "UniProtKB", "id": "Q9VLV9", "url": "https://www.uniprot.org/uniprotkb/Q9VLV9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VLX0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 928, "chemical_mass": 103125.0, "gene_names": "LKRSDH;BEST:CK02318;CG7144;CK02318;Dmel\\CG7144;Dmel_CG7144;LKRSDH;LKR;SDH;anon-WO0149856.1;dLKR;lys", "protein_name": "Alpha-aminoadipic semialdehyde synthase, mitochondrial", "disease": [ { "disease_id": "DOID:9274", "name": "hyperlysinemia", "description": "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.", "url": "https://disease-ontology.org/term/DOID:9274", "evidence": [ { "id": "9274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9274" } ], "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": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "lysine catabolic process", "id": "GO:0006554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006554", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "lysine biosynthetic process via aminoadipic acid", "id": "GO:0019878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019878", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "L-lysine catabolic process to acetyl-CoA via saccharopine", "id": "GO:0033512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033512", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "L-lysine catabolic process", "id": "GO:0019477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019477", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "negative regulation of ecdysone receptor signaling pathway", "id": "GO:0120143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120143", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" } ], "molecular_function": [ { "name": "saccharopine dehydrogenase activity", "id": "GO:0004753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004753", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "saccharopine dehydrogenase (NADP+, L-lysine-forming) activity", "id": "GO:0047130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047130", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity", "id": "GO:0047131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047131", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "saccharopine dehydrogenase (NAD+, L-lysine-forming) activity", "id": "GO:0004754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004754", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VLX0", "url": "https://www.uniprot.org/uniprotkb/Q9VLX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VLZ8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VLZ8", "url": "https://www.uniprot.org/uniprotkb/Q9VLZ8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 378, "chemical_mass": 43246.0, "gene_names": "Spn28B;CG6717;Dmel\\CG6717;Dmel_CG6717;Spn28B;Spn7", "protein_name": "", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070555", "name": "Nagashima-type palmoplantar keratosis", "description": "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.", "url": "https://disease-ontology.org/term/DOID:0070555", "evidence": [ { "id": "0070555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070555" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0090030", "name": "corticosteroid-binding globulin deficiency", "description": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.", "url": "https://disease-ontology.org/term/DOID:0090030", "evidence": [ { "id": "0090030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090030" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins.", "url": "https://disease-ontology.org/term/DOID:3755", "evidence": [ { "id": "3755", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VMS4", "url": "https://www.uniprot.org/uniprotkb/Q9VMS4" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9VMS4", "url": "https://www.uniprot.org/uniprotkb/Q9VMS4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { 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"chitin-based extracellular matrix", "id": "GO:0062129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062129", "evidence": [ { "database": "UniProtKB", "id": "Q9VP55", "url": "https://www.uniprot.org/uniprotkb/Q9VP55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VP55-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Thr114", "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": 114, "start_aa": "Thr", "end_pos": 114, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr114", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VP84-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP84", "url": "https://www.uniprot.org/uniprotkb/Q9VP84" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 189, "chemical_mass": 20881.0, "gene_names": "Dmel\\CG10581;CG10581;Dmel\\CG10581;Dmel_CG10581", "protein_name": "Nucleoside-triphosphate phosphatase", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VP84", "url": "https://www.uniprot.org/uniprotkb/Q9VP84" } ], "pmid": "" }, { "name": "ribonucleoside triphosphate phosphatase activity", "id": "GO:0017111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017111", "evidence": [ { "database": "UniProtKB", "id": "Q9VP84", "url": "https://www.uniprot.org/uniprotkb/Q9VP84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VP98-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VP98", "url": "https://www.uniprot.org/uniprotkb/Q9VP98" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 98, "chemical_mass": 8135.0, "gene_names": "Dmel\\CG11458;CG11458;Dmel\\CG11458;Dmel_CG11458;FBgn0040637", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VP98", "url": "https://www.uniprot.org/uniprotkb/Q9VP98" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VPB8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPB8", "url": "https://www.uniprot.org/uniprotkb/Q9VPB8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 280, "chemical_mass": 30805.0, "gene_names": "Pex14;CG4289;DmelPex14;Dmel\\CG4289;Dmel_CG4289;PEX14;Pex14", "protein_name": "Peroxisomal membrane protein PEX14", "disease": [ { "disease_id": "DOID:0080487", "name": "peroxisome biogenesis disorder 13A", "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080487", "evidence": [ { "id": "0080487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080487" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein import into peroxisome matrix, translocation", "id": "GO:0016561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016561", "evidence": [ { "database": "UniProtKB", "id": "Q9VPB8", "url": "https://www.uniprot.org/uniprotkb/Q9VPB8" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix", "id": "GO:0016558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016558", "evidence": [ { "database": "UniProtKB", "id": "Q9VPB8", "url": "https://www.uniprot.org/uniprotkb/Q9VPB8" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, docking", "id": "GO:0016560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016560", "evidence": [ { "database": "UniProtKB", "id": "Q9VPB8", "url": "https://www.uniprot.org/uniprotkb/Q9VPB8" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisomal importomer complex", "id": "GO:1990429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990429", "evidence": [ { "database": "UniProtKB", "id": "Q9VPB8", "url": "https://www.uniprot.org/uniprotkb/Q9VPB8" } ], "pmid": "" }, { "name": "peroxisome", "id": 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"weight": 0.0 } ], "biological_process": [ { "name": "insemination", "id": "GO:0007320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007320", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH9", "url": "https://www.uniprot.org/uniprotkb/Q9VPH9" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH9", "url": "https://www.uniprot.org/uniprotkb/Q9VPH9" } ], "pmid": "" }, { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH9", "url": "https://www.uniprot.org/uniprotkb/Q9VPH9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH9", "url": "https://www.uniprot.org/uniprotkb/Q9VPH9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VPH9", "url": "https://www.uniprot.org/uniprotkb/Q9VPH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VPP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPP0", "url": "https://www.uniprot.org/uniprotkb/Q9VPP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 476, "chemical_mass": 53143.0, "gene_names": "Ent1;CG11907;DmENT1;DmEnt1;Dmel\\CG11907;Dmel_CG11907;ENT1;Ent1;anon-EST:fe2G2;dENT1;ent1", "protein_name": "", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 751, "start_aa": "Thr", "end_pos": 751, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr751", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VPS1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VPS1", "url": "https://www.uniprot.org/uniprotkb/Q9VPS1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 249, "chemical_mass": 29008.0, "gene_names": "lectin-21Cb;AC 004573B;AC004573b;CG13686;Dmel\\CG13686;Dmel_CG13686;lectin-21Cb", "protein_name": "", "disease": [ { "disease_id": "DOID:0060577", "name": "3MC syndrome 3", "description": "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on 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heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0061119", "name": "autosomal dominant tubulointerstitial kidney disease 4", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0061119", "evidence": [ { "id": "0061119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061119" } ], "weight": 0.0 }, { "disease_id": "DOID:0080827", "name": "human cytomegalovirus infection", "description": "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).", "url": "https://disease-ontology.org/term/DOID:0080827", "evidence": [ { "id": "0080827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080827" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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: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": 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"batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VQA7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQA7", "url": "https://www.uniprot.org/uniprotkb/Q9VQA7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 146, "chemical_mass": 16593.0, "gene_names": "Dmel\\CG16995;CG16995;Dmel\\CG16995;Dmel_CG16995", "protein_name": "SCP domain-containing protein", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9VQA7", "url": "https://www.uniprot.org/uniprotkb/Q9VQA7" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VQA7", "url": "https://www.uniprot.org/uniprotkb/Q9VQA7" } ], "pmid": "" } ], "biological_process": [ { "name": "mating", "id": "GO:0007618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007618", "evidence": [ { "database": "UniProtKB", "id": "Q9VQA7", "url": "https://www.uniprot.org/uniprotkb/Q9VQA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VQB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQB4", "url": "https://www.uniprot.org/uniprotkb/Q9VQB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 335, "chemical_mass": 37286.0, "gene_names": "Dmel\\CG3609;CG3609;CT12127;Dmel\\CG3609;Dmel_CG3609", "protein_name": "Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase", "disease": [], "molecular_function": [ { "name": "nucleotide binding", "id": "GO:0000166", "url": 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"biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VQC0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 632, "chemical_mass": 68853.0, "gene_names": "VGlut1;CG9887;DV-Glut;DVGLUT;DVGluT;DVGlut;Dmel\\CG9887;Dmel_CG9887;DvGluT;DvGlut;MFS11;VGLUT;VGluT;VGlut;Vglut;dVGLUT;dVGlut;dvGluT;dvGlut;dvglut;vGLUT;vGluT;vGlut;vglut", "protein_name": "", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], 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"disease_id": "DOID:5463", "name": "cochlear disease", "description": "", "url": "https://disease-ontology.org/term/DOID:5463", "evidence": [ { "id": "5463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5463" } ], "weight": 0.0 }, { "disease_id": "DOID:9784", "name": "trichinosis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. 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Myocarditis, central nervous system involvement, and pneumonitis can also occur.", "url": "https://disease-ontology.org/term/DOID:9784", "evidence": [ { "id": "9784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9784" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transporter activity", "id": "GO:0005313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005313", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of synapse structure or activity", "id": "GO:0050803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050803", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": "https://www.uniprot.org/uniprotkb/Q9VQC0" } ], "pmid": "" }, { "name": "regulation of cellular pH", "id": "GO:0030641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030641", "evidence": [ { "database": "UniProtKB", "id": "Q9VQC0", "url": 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"name": "response to chlorate", "id": "GO:0010157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010157", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception", "id": "GO:0050907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050907", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "cellular response to acidic pH", "id": "GO:0071468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071468", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": "https://www.uniprot.org/uniprotkb/Q9VRL4" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "Q9VRL4", "url": 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function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 4F complex", "id": "GO:0016281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016281", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA 7-methylguanosine cap binding", "id": "GO:0000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000340", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "RNA cap binding", "id": "GO:0000339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000339", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" }, { "name": "eukaryotic initiation factor 4G binding", "id": "GO:0031370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031370", "evidence": [ { "database": "UniProtKB", "id": "Q9VSG1", "url": "https://www.uniprot.org/uniprotkb/Q9VSG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSH1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSH1", "url": "https://www.uniprot.org/uniprotkb/Q9VSH1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 313, "chemical_mass": 36042.0, "gene_names": "Sbp2;CG7066;Dmel\\CG7066;Dmel_CG7066;SBP2;Sbp2", "protein_name": "", "disease": [ { "disease_id": "DOID:50", "name": "thyroid gland disease", "description": "An endocrine system disease that is located_in the thyroid.", "url": "https://disease-ontology.org/term/DOID:50", "evidence": [ { "id": "50", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:50" } ], "weight": 0.0 } ], "biological_process": [ { "name": "selenocysteine incorporation", "id": "GO:0001514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001514", "evidence": [ { "database": "UniProtKB", "id": "Q9VSH1", "url": "https://www.uniprot.org/uniprotkb/Q9VSH1" } ], "pmid": "" } ], "molecular_function": [ { "name": "selenocysteine insertion sequence binding", "id": "GO:0035368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035368", "evidence": [ { "database": "UniProtKB", "id": "Q9VSH1", "url": "https://www.uniprot.org/uniprotkb/Q9VSH1" } ], "pmid": "" }, { "name": "RNA stem-loop binding", "id": "GO:0035613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035613", "evidence": [ { "database": "UniProtKB", "id": "Q9VSH1", "url": "https://www.uniprot.org/uniprotkb/Q9VSH1" } ], "pmid": "" } ], "cellular_component": [ { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q9VSH1", "url": "https://www.uniprot.org/uniprotkb/Q9VSH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSI1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 513, "chemical_mass": 56819.0, "gene_names": "Dmel\\CG7182;CG7182;Dmel\\CG7182;Dmel_CG7182", "protein_name": "", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "Q9VSI1", "url": "https://www.uniprot.org/uniprotkb/Q9VSI1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSK6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSK6", "url": "https://www.uniprot.org/uniprotkb/Q9VSK6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2523, "chemical_mass": 270415.0, "gene_names": "CG6915;CG43163;CG6902;CG6915;Dmel\\CG43163;Dmel_CG43163", "protein_name": "Tetratricopeptide repeat protein 28", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VSK6-1", "start_pos": "1986", "end_pos": "1986", "site_lbl": "Thr1986", "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": 1986, "start_aa": "Thr", "end_pos": 1986, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1986", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSK9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSK9", "url": "https://www.uniprot.org/uniprotkb/Q9VSK9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 734, "chemical_mass": 82800.0, "gene_names": "Pus7;CG6745;CT20937;Dmel\\CG6745;PUS7;Pus7;pus7", "protein_name": "Pseudouridylate synthase 7 homolog", "disease": [ { "disease_id": "DOID:0081265", "name": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "description": "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.", "url": "https://disease-ontology.org/term/DOID:0081265", "evidence": [ { "id": "0081265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081265" } ], "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: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": "tRNA pseudouridine synthesis", "id": "GO:0031119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031119", "evidence": [ { 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"database": "UniProtKB", "id": "Q9VSK9", "url": "https://www.uniprot.org/uniprotkb/Q9VSK9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VSK9", "url": "https://www.uniprot.org/uniprotkb/Q9VSK9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSN9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 244, "chemical_mass": 27088.0, "gene_names": "SrpRbeta;BcDNA:GM04779;CG33162;CG5950;Dm SRbeta;Dmel\\CG33162;Dmel_CG33162;Q9VSN9;SRbeta;SrpR-beta;SrpRbeta;l(3)rK561;l(3)rL537;srpRbeta", "protein_name": "Signal recognition particle receptor subunit beta", "disease": [], "cellular_component": [ { "name": "signal recognition particle receptor complex", "id": "GO:0005785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005785", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" } ], "molecular_function": [ { "name": "signal recognition particle binding", "id": "GO:0005047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005047", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein targeting to ER", "id": "GO:0045047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045047", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition", "id": "GO:0006617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006617", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "larval chitin-based cuticle development", "id": "GO:0008363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008363", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" }, { "name": "chitin-based larval cuticle pattern formation", "id": "GO:0035293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035293", "evidence": [ { "database": "UniProtKB", "id": "Q9VSN9", "url": "https://www.uniprot.org/uniprotkb/Q9VSN9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSP0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSP0", "url": "https://www.uniprot.org/uniprotkb/Q9VSP0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1211, "chemical_mass": 137327.0, "gene_names": "Dmel\\CG6511;CG6511;Dmel\\CG6511;Dmel_CG6511", "protein_name": "Erythroid differentiation-related factor 1", "disease": [], "biological_process": [ { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VSP0", "url": "https://www.uniprot.org/uniprotkb/Q9VSP0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VST8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 351, "chemical_mass": 39295.0, "gene_names": "Dmel\\CG4942;CG4942;Dmel\\CG4942;Dmel_CG4942", "protein_name": "Membrane insertase YidC/Oxa/ALB C-terminal domain-containing protein", "disease": [], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex IV assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "pmid": "" }, { "name": "respiratory chain complex IV assembly", "id": "GO:0008535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008535", "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial inner membrane from matrix", "id": "GO:0032979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032979", "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "pmid": "" } ], "molecular_function": [ { "name": "membrane insertase activity", "id": "GO:0032977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032977", "evidence": [ { "database": "UniProtKB", "id": "Q9VST8", "url": "https://www.uniprot.org/uniprotkb/Q9VST8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSU6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": 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"glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 599, "chemical_mass": 66058.0, "gene_names": "Slc45-1;CG4484;Dmel\\CG4484;Dmel_CG4484;Slc45-1;scrt", "protein_name": "", "disease": [ { "disease_id": "DOID:0050632", "name": "oculocutaneous albinism", "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.", "url": "https://disease-ontology.org/term/DOID:0050632", "evidence": [ { "id": "0050632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050632" } ], "weight": 0.0 }, { "disease_id": "DOID:0070098", "name": "oculocutaneous albinism type IV", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.", "url": "https://disease-ontology.org/term/DOID:0070098", "evidence": [ { "id": "0070098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070098" } ], "weight": 0.0 }, { 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"id": "GO:0015770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015770", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV1", "url": "https://www.uniprot.org/uniprotkb/Q9VSV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VSV2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 629, "chemical_mass": 69779.0, "gene_names": "DmNAT3;CG4476;DmNAT3;Dmel\\CG4476;Dmel_CG4476;anon-WO0149848.7", "protein_name": "Transporter", "disease": [], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", 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"UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "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": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" }, { "name": "amino acid transmembrane transport", "id": "GO:0003333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003333", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" }, { "name": "glycine import across plasma membrane", "id": "GO:1903804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903804", "evidence": [ { "database": "UniProtKB", "id": "Q9VSV2", "url": "https://www.uniprot.org/uniprotkb/Q9VSV2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VSV2-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Thr451", "weight": 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"reference_species": "Drosophila melanogaster [7227]" } ], "length": 200, "chemical_mass": 23778.0, "gene_names": "BEST:GH12586;148460_at;4461;BEST:GH12586;CG4461;DmCG4461;Dmel23.8;Dmel\\CG4461;Dmel_CG4461;Hsp20;gh12586", "protein_name": "SHSP domain-containing protein", "disease": [ { "disease_id": "DOID:0080093", "name": "adult-onset myofibrillar myopathy 2A", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080093", "evidence": [ { "id": "0080093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080093" } ], "weight": 0.0 }, { "disease_id": "DOID:0080309", "name": "infantile-onset myofibrillar myopathy-2B", "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080309", "evidence": [ { "id": 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development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q9VT31", "url": "https://www.uniprot.org/uniprotkb/Q9VT31" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "Q9VT31", "url": "https://www.uniprot.org/uniprotkb/Q9VT31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VT31-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Thr122", "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": 122, "start_aa": "Thr", "end_pos": 122, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr122", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VT59-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT59", "url": "https://www.uniprot.org/uniprotkb/Q9VT59" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 358, "chemical_mass": 39196.0, "gene_names": "Dmel\\CG10809;CG10809;Dmel\\CG10809;Dmel_CG10809", "protein_name": "Ankyrin repeat domain-containing protein 54", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VT59-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Thr62", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": 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"GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VT78-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VT78", "url": "https://www.uniprot.org/uniprotkb/Q9VT78" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 483, "chemical_mass": 54115.0, "gene_names": "Dmel\\CG14160;CG14160;Dmel\\CG14160;Dmel_CG14160", "protein_name": "Major facilitator superfamily (MFS) profile domain-containing protein", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VT78", "url": "https://www.uniprot.org/uniprotkb/Q9VT78" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane transporter activity", "id": 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"evidence": [ { "database": "UniProtKB", "id": "Q9VT97", "url": "https://www.uniprot.org/uniprotkb/Q9VT97" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VTB7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTB7", "url": "https://www.uniprot.org/uniprotkb/Q9VTB7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 250, "chemical_mass": 21955.0, "gene_names": "BcDNA:RE74758;BcDNA:RE74758;CG12523;Dmel\\CG12523;Dmel_CG12523", "protein_name": "DUF4766 domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VTH1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VTH1", "url": 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], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 585, "chemical_mass": 67493.0, "gene_names": "RIOK1;CG11660;Dmel\\CG11660;Dmel_CG11660;RIOK1;Rio1;dRIOK1", "protein_name": "Serine/threonine-protein kinase RIO1", "disease": [ { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q9VTL5", "url": "https://www.uniprot.org/uniprotkb/Q9VTL5" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 221, "chemical_mass": 24594.0, "gene_names": "ND-20;20 kDa;CG9172;Dmel\\CG9172;Dmel_CG9172;ND-20;ND20;NDUFS7;NUKM;PSST;dNDUFS7A;dNDUFS7", "protein_name": "Probable NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial", "disease": [ { "disease_id": "DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.", "url": "https://disease-ontology.org/term/DOID:0060037", "evidence": [ { "id": "0060037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ], "weight": 0.0 }, { "disease_id": "DOID:0060536", "name": "mitochondrial complex I deficiency", "description": "A mitochondrial metabolism disease characterized by a wide 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270, "chemical_mass": 28995.0, "gene_names": "Eglp3;Aqp17662;CG17662;Dmel\\CG17662;Dmel_CG17662;Eglp 3;Eglp3", "protein_name": "", "disease": [ { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070006", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S1", "url": "https://www.uniprot.org/uniprotkb/Q9W1S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W1S6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1S6", "url": "https://www.uniprot.org/uniprotkb/Q9W1S6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 172, "chemical_mass": 20135.0, "gene_names": "atlas;CG13541;Dmel\\CG13541;Dmel_CG13541;atlas;atl", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S6", "url": "https://www.uniprot.org/uniprotkb/Q9W1S6" } ], "pmid": "" } ], "biological_process": [ { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "Q9W1S6", "url": "https://www.uniprot.org/uniprotkb/Q9W1S6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W1T9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 922, "chemical_mass": 104769.0, "gene_names": "Ctr9L;CG9899;Dmel\\CG9899;Dmel_CG9899;dctr9", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" }, { "name": "Cdc73/Paf1 complex", "id": "GO:0016593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016593", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "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": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" }, { "name": "male germ-line sex determination", "id": "GO:0019100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019100", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" } ], "molecular_function": [ { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q9W1T9", "url": "https://www.uniprot.org/uniprotkb/Q9W1T9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W1U9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1U9", "url": "https://www.uniprot.org/uniprotkb/Q9W1U9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 88, "chemical_mass": 8387.0, "gene_names": "Dmel\\CG9877;BcDNA:RE26296;CG9877;Dmel\\CG9877;Dmel_CG9877", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W1W4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1W4", "url": "https://www.uniprot.org/uniprotkb/Q9W1W4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 28890.0, "gene_names": "Dmel\\CG9896;CG9896;Dmel\\CG9896;Dmel_CG9896", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W1Z6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1136, "chemical_mass": 128949.0, "gene_names": "stl;BcDNA:GM08694;CG3622;Dmel\\CG3622;Dmel_CG3622;fs(2)A16;stl", "protein_name": "", "disease": [ { "disease_id": "DOID:0050646", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet.", "url": "https://disease-ontology.org/term/DOID:0050646", "evidence": [ { "id": "0050646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050646" } ], "weight": 0.0 }, { "disease_id": "DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.", "url": "https://disease-ontology.org/term/DOID:0050784", "evidence": [ { "id": "0050784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060366", "name": "Hennekam syndrome", "description": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.", "url": "https://disease-ontology.org/term/DOID:0060366", "evidence": [ { "id": "0060366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060366" } ], "weight": 0.0 }, { "disease_id": "DOID:0080733", "name": "Ehlers-Danlos syndrome dermatosparaxis type", "description": "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.", "url": "https://disease-ontology.org/term/DOID:0080733", "evidence": [ { "id": "0080733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080733" } ], "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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12800", "name": "mucopolysaccharidosis VI", "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.", "url": "https://disease-ontology.org/term/DOID:12800", "evidence": [ { "id": "12800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12800" } ], "weight": 0.0 }, { "disease_id": "DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.", "url": "https://disease-ontology.org/term/DOID:13359", "evidence": [ { "id": "13359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13359" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5200", "name": "urinary tract obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:5200", "evidence": [ { "id": "5200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5200" } ], "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: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:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "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": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" }, { "name": "follicle cell of egg chamber stalk formation", "id": "GO:0030713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030713", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9W1Z6", "url": "https://www.uniprot.org/uniprotkb/Q9W1Z6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W213-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1395, "chemical_mass": 151760.0, "gene_names": "robo1;BEST:GM07780;CG13521;CT32892;D-Robo1;Dmel\\CG13521;Dmel_CG13521;ROBO;Robo-1;Robo1;Robo;dRobo1;dRobo;robo-1;robo1S;robo1;robo;roundabout", "protein_name": "", "disease": [ { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.", "url": "https://disease-ontology.org/term/DOID:0060475", "evidence": [ { "id": "0060475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ], "weight": 0.0 }, { "disease_id": "DOID:0061018", "name": "combined or isolated pituitary hormone deficiency 8", "description": "A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12.", "url": "https://disease-ontology.org/term/DOID:0061018", "evidence": [ { "id": "0061018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061018" } ], "weight": 0.0 }, { "disease_id": "DOID:0061178", "name": "autosomal recessive congenital nystagmus 8", "description": "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.", "url": "https://disease-ontology.org/term/DOID:0061178", "evidence": [ { "id": "0061178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061178" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "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: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: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:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:3721", "name": "plasmacytoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3721", "evidence": [ { "id": "3721", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3721" } ], "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: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: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:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon midline choice point recognition", "id": "GO:0016199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016199", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "entrainment of circadian clock", "id": "GO:0009649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009649", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "embryonic heart tube formation", "id": "GO:0003144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003144", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "neuron recognition", "id": "GO:0008038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008038", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "Roundabout signaling pathway", "id": "GO:0035385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035385", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "salivary gland boundary specification", "id": "GO:0007432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007432", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite guidance", "id": "GO:0070983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070983", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "photoreceptor cell axon guidance", "id": "GO:0072499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072499", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration, open tracheal system", "id": "GO:2000274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000274", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "Slit-Robo signaling complex", "id": "GO:0071666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071666", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" }, { "name": "axon guidance receptor activity", "id": "GO:0008046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008046", "evidence": [ { "database": "UniProtKB", "id": "Q9W213", "url": "https://www.uniprot.org/uniprotkb/Q9W213" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W226-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W226", "url": "https://www.uniprot.org/uniprotkb/Q9W226" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 153, "chemical_mass": 17416.0, "gene_names": "Dmel\\CG30195;CG13513;CG30195;Dmel\\CG30195;Dmel_CG30195", "protein_name": "LITAF 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": "Q9W226", "url": "https://www.uniprot.org/uniprotkb/Q9W226" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W235-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W235", "url": "https://www.uniprot.org/uniprotkb/Q9W235" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1171, "chemical_mass": 135557.0, "gene_names": "tous;CG4329;Cfap57;Dmel\\CG4329;Dmel_CG4329;anon-WO0140519.244;tous", "protein_name": "", "disease": [ { "disease_id": "DOID:0070594", "name": "spermatogenic failure 95", "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2.", "url": "https://disease-ontology.org/term/DOID:0070594", "evidence": [ { "id": "0070594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070594" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 } ], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q9W235", "url": "https://www.uniprot.org/uniprotkb/Q9W235" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9W235", "url": "https://www.uniprot.org/uniprotkb/Q9W235" } ], "pmid": "" }, { "name": "inner dynein arm assembly", "id": "GO:0036159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036159", "evidence": [ { "database": "UniProtKB", "id": "Q9W235", "url": "https://www.uniprot.org/uniprotkb/Q9W235" } ], "pmid": "" } ], "cellular_component": [ { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "Q9W235", "url": "https://www.uniprot.org/uniprotkb/Q9W235" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W243-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W243", "url": 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"Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W245", "url": "https://www.uniprot.org/uniprotkb/Q9W245" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 661, "chemical_mass": 73596.0, "gene_names": "Dmel\\CG4610;CG4610;Dmel\\CG4610;Dmel_CG4610", "protein_name": "tRNA uridine 5-carboxymethylaminomethyl modification enzyme C-terminal subdomain domain-containing protein", "disease": [ { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050563", "evidence": [ { "id": "0050563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ], "weight": 0.0 }, { 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"cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9W245", "url": "https://www.uniprot.org/uniprotkb/Q9W245" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9W245", "url": "https://www.uniprot.org/uniprotkb/Q9W245" } ], "pmid": "" }, { "name": "GTPBP3-MTO1 complex", "id": "GO:7770010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:7770010", "evidence": [ { "database": "UniProtKB", "id": "Q9W245", "url": "https://www.uniprot.org/uniprotkb/Q9W245" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9W245", "url": "https://www.uniprot.org/uniprotkb/Q9W245" } ], "pmid": "" } ], 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loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4556", "name": "lung large cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4556", "evidence": [ { "id": "4556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4556" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "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": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "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": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "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": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9W3G6", "url": "https://www.uniprot.org/uniprotkb/Q9W3G6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W3J6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3J6", "url": "https://www.uniprot.org/uniprotkb/Q9W3J6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 301, "chemical_mass": 33799.0, "gene_names": "Dmel\\CG17982;CG17982;Dmel\\CG17982;Dmel_CG17982", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W3M6-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 300, "chemical_mass": 35233.0, "gene_names": "Dhdds;CG10778;DHDDS;Dhdds;Dmel\\CG10778;Dmel_CG10778", "protein_name": "Alkyl transferase", "disease": [ { "disease_id": "DOID:0080473", "name": "developmental delay and seizures with or without movement abnormalities", "description": "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080473", "evidence": [ { "id": "0080473", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080473" } ], "weight": 0.0 }, { "disease_id": "DOID:0110352", "name": "retinitis pigmentosa 59", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.", "url": "https://disease-ontology.org/term/DOID:0110352", "evidence": [ { "id": "0110352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110352" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" }, { "name": "dehydrodolichyl diphosphate synthase complex", "id": "GO:1904423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904423", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "biological_process": [ { "name": "dolichyl monophosphate biosynthetic process", "id": "GO:0043048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043048", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" }, { "name": "polyprenol biosynthetic process", "id": "GO:0016094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016094", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity", "id": "GO:0045547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045547", "evidence": [ { "database": "UniProtKB", "id": "Q9W3M6", "url": "https://www.uniprot.org/uniprotkb/Q9W3M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W3S5-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 313, "chemical_mass": 35247.0, "gene_names": "Dmel\\CG4615;CG4615;Dmel\\CG4615;Dmel_CG4615", "protein_name": "Monocyte to macrophage differentiation factor", "disease": [ { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" }, { "name": "pore-forming activity", "id": "GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "Q9W3S5", "url": "https://www.uniprot.org/uniprotkb/Q9W3S5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W3W0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1123, "chemical_mass": 124673.0, "gene_names": "iav;CG4536;CT14708;DmIav;Dmel\\CG4536;Dmel_CG4536;IAV;Iav;TRPV;hypoB;iav;osm-9", "protein_name": "", "disease": [ { "disease_id": "DOID:0110182", "name": "Charcot-Marie-Tooth disease axonal type 2C", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0110182", "evidence": [ { "id": "0110182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110182" } ], "weight": 0.0 }, { "disease_id": "DOID:0110555", "name": "autosomal dominant nonsyndromic deafness 25", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0110555", "evidence": [ { "id": "0110555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110555" } ], "weight": 0.0 }, { "disease_id": "DOID:0111215", "name": "autosomal dominant distal hereditary motor neuronopathy 8", "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111215", "evidence": [ { "id": "0111215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111215" } ], "weight": 0.0 }, { "disease_id": "DOID:0111514", "name": "metatropic dysplasia", "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111514", "evidence": [ { "id": "0111514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111514" } ], "weight": 0.0 }, { "disease_id": "DOID:0111539", "name": "parastremmatic dwarfism", "description": "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111539", "evidence": [ { "id": "0111539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111539" } ], "weight": 0.0 }, { "disease_id": "DOID:0111552", "name": "scapuloperoneal spinal muscular atrophy", "description": "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111552", "evidence": [ { "id": "0111552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111552" } ], "weight": 0.0 }, { "disease_id": "DOID:0111553", "name": "spondyloepiphyseal dysplasia Maroteaux type", "description": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111553", "evidence": [ { "id": "0111553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111553" } ], "weight": 0.0 }, { "disease_id": "DOID:0111554", "name": "spondylometaphyseal dysplasia Kozlowski type", "description": "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111554", "evidence": [ { "id": "0111554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111554" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:13543", "name": "hyperparathyroidism", "description": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.", "url": "https://disease-ontology.org/term/DOID:13543", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception", "id": "GO:0050974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050974", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "thermosensory behavior", "id": "GO:0040040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040040", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "negative gravitaxis", "id": "GO:0048060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048060", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", 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"https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" }, { "name": "mechanosensitive monoatomic cation channel activity", "id": "GO:0140135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140135", "evidence": [ { "database": "UniProtKB", "id": "Q9W3W0", "url": "https://www.uniprot.org/uniprotkb/Q9W3W0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W3Y1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 700, "chemical_mass": 78665.0, "gene_names": "Cdc7;CG32742;CG8655;CG8656;CT25076;Cdc7;Dmel\\CG32742;L(1)G0148;anon-WO03040301.250;cdc7-related;cdc7;l(1)G0148;l(1)G0149;l(1)G0461", "protein_name": "non-specific serine/threonine protein kinase Cdc7", "disease": [], "biological_process": [ { "name": "mitotic DNA damage checkpoint signaling", "id": "GO:0044773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044773", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033314", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "endomitotic cell cycle", "id": "GO:0007113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007113", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "embryonic development via the syncytial blastoderm", "id": "GO:0001700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001700", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "eggshell chorion gene amplification", "id": "GO:0007307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007307", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", "url": "https://www.uniprot.org/uniprotkb/Q9W3Y1" } ], "pmid": "" }, { "name": "histone kinase activity", "id": "GO:0035173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035173", "evidence": [ { "database": "UniProtKB", "id": "Q9W3Y1", 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"gene_names": "CG15892;CG15891;CG15892;CG32918;Dmel\\CG15891;Dmel_CG15891", "protein_name": "UMA domain-containing protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9W413-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W413", "url": "https://www.uniprot.org/uniprotkb/Q9W413" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 544, "chemical_mass": 62156.0, "gene_names": "mldr;CG15896;Dmel\\CG15896;MRPP3;PRORP;mldr", "protein_name": "Mitochondrial ribonuclease P catalytic subunit", "disease": [ { "disease_id": "DOID:0070427", "name": "combined oxidative phosphorylation deficiency 54", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 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], "weight": 0.0 }, { "disease_id": "DOID:0110932", "name": "congenital myopathy 23", "description": "A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.", "url": "https://disease-ontology.org/term/DOID:0110932", "evidence": [ { "id": "0110932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110932" } ], "weight": 0.0 }, { "disease_id": "DOID:0111597", "name": "distal arthrogryposis type 1A", "description": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3.", "url": "https://disease-ontology.org/term/DOID:0111597", "evidence": [ { "id": "0111597", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111597" } ], "weight": 0.0 }, { "disease_id": "DOID:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet 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"https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0050872", "name": "large cell neuroendocrine carcinoma", "description": "A lung large cell carcinoma that derives_from neuroendocrine cells.", "url": "https://disease-ontology.org/term/DOID:0050872", 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"DOID:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "weight": 0.0 }, { "disease_id": "DOID:1996", "name": "rectum adenocarcinoma", "description": "A rectum cancer that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:1996", "evidence": [ { "id": "1996", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1996" } ], "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:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from 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"description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "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 }, { 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"A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "A1ZA47", "url": "https://www.uniprot.org/uniprotkb/A1ZA47" } ], 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0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 98, "start_aa": "Thr", "end_pos": 98, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr98", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P91623-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P91623", "url": "https://www.uniprot.org/uniprotkb/P91623" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 486, "chemical_mass": 50634.0, "gene_names": "grn;CG9656-PA;CG9656;Dmel\\CG9656;Dmel_CG9656;GATAc;GRAIN;Gata-c;Gata2;Grn;dGATA-2;dGATAc;dGatac;gra;grn;l(3)84Fa", "protein_name": "GATA-binding factor C", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "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:0060348", "name": "hypoparathyroidism-retardation-dysmorphism syndrome", "description": "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3.", "url": "https://disease-ontology.org/term/DOID:0060348", "evidence": [ { "id": "0060348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060348" } ], "weight": 0.0 }, { "disease_id": "DOID:0060878", "name": "hypoparathyroidism-deafness-renal disease syndrome", "description": "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.", "url": "https://disease-ontology.org/term/DOID:0060878", "evidence": [ { "id": "0060878", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060878" } ], "weight": 0.0 }, { "disease_id": "DOID:0111947", "name": "immunodeficiency 21", "description": "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.", "url": "https://disease-ontology.org/term/DOID:0111947", "evidence": [ { "id": "0111947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111947" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11199", "name": "hypoparathyroidism", "description": "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.", "url": "https://disease-ontology.org/term/DOID:11199", "evidence": [ { "id": "11199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11199" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": 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"https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" }, { "name": "proteasome complex", "id": "GO:0000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000502", "evidence": [ { "database": "UniProtKB", "id": "P26270", "url": "https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" }, { "name": "proteasome regulatory particle, lid subcomplex", "id": "GO:0008541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008541", "evidence": [ { "database": "UniProtKB", "id": "P26270", "url": "https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" }, { "name": "proteasome regulatory particle", "id": "GO:0005838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005838", "evidence": [ { "database": "UniProtKB", "id": "P26270", "url": "https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P26270", "url": "https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "P26270", "url": "https://www.uniprot.org/uniprotkb/P26270" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P04357-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P04357", "url": "https://www.uniprot.org/uniprotkb/P04357" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 40, "chemical_mass": 3853.0, "gene_names": "MtnA;BcDNA:GH18460;CG9470;Dmel\\CG9470;Dmel_CG9470;DrosMtn;MTA;MTN;MT;MtnA;Mtn;anon-WO0153538.42;anon-WO0153538.44;anon-WO0153538.49;mtnA;mtna", "protein_name": "Metallothionein-1", "disease": [], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04357", "url": "https://www.uniprot.org/uniprotkb/P04357" } ], "pmid": "" } ], "biological_process": [ { "name": "response to metal ion", "id": "GO:0010038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010038", "evidence": [ { "database": "UniProtKB", "id": "P04357", "url": "https://www.uniprot.org/uniprotkb/P04357" } ], "pmid": "" }, { "name": "cellular detoxification of metal ion", "id": "GO:0140961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140961", "evidence": [ { "database": "UniProtKB", "id": "P04357", "url": "https://www.uniprot.org/uniprotkb/P04357" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q23971-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q23971", "url": "https://www.uniprot.org/uniprotkb/Q23971" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 135, "chemical_mass": 14917.0, "gene_names": "Os-C;CG3250;Dmel\\CG3250;Dmel_CG3250;OS-C;Os-C;Os-c", "protein_name": "Antennal-specific protein OS-C", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P05130-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 679, "chemical_mass": 77695.0, "gene_names": "Pkc53E;CG6622;DPKC;Dmel\\CG6622;Dmel_CG6622;Dpkc1;PK-C;PKC 53B;PKC 53E;PKC-53B;PKC-53E;PKC1;PKC53E;PKC53e;PKC;Pkc1;Pkc53E;dPKC53E(br);dPKC;pck53E;pkc53E;pkc53e", "protein_name": "Protein kinase C, brain isozyme", "disease": [ { "disease_id": "DOID:0050964", "name": "spinocerebellar ataxia 14", "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.", "url": "https://disease-ontology.org/term/DOID:0050964", "evidence": [ { "id": "0050964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050964" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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:3774", "name": "chordoid glioma", "description": "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.", "url": "https://disease-ontology.org/term/DOID:3774", "evidence": [ { "id": "3774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3774" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "calcium,diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004698", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "diacylglycerol-dependent serine/threonine kinase activity", "id": "GO:0004697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004697", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" }, { "name": "regulation of hemocyte proliferation", "id": "GO:0035206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035206", "evidence": [ { "database": "UniProtKB", "id": "P05130", "url": "https://www.uniprot.org/uniprotkb/P05130" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q03427-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q03427", "url": "https://www.uniprot.org/uniprotkb/Q03427" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 621, "chemical_mass": 69860.0, "gene_names": "LamC;CG10119;DmC;Dmel\\CG10119;Dmel_CG10119;G-IF;LAMC;LamC;lamC;lamin C;pG-IF", "protein_name": "Lamin-C", "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 the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "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:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.", "url": "https://disease-ontology.org/term/DOID:0050557", "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ], "weight": 0.0 }, { "disease_id": "DOID:0050820", "name": "atrioventricular block", "description": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.", "url": "https://disease-ontology.org/term/DOID:0050820", "evidence": [ { "id": "0050820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050820" } ], "weight": 0.0 }, { "disease_id": "DOID:0051037", "name": "autosomal dominant primary microcephaly 26", "description": "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0051037", "evidence": [ { "id": "0051037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051037" } ], "weight": 0.0 }, { "disease_id": "DOID:0051038", "name": "autosomal dominant primary microcephaly 27", "description": "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0051038", "evidence": [ { "id": "0051038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060785", "name": "typical adult-onset autosomal dominant demyelinating leukodystrophy", "description": "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.", "url": "https://disease-ontology.org/term/DOID:0060785", "evidence": [ { "id": "0060785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060785" } ], "weight": 0.0 }, { "disease_id": "DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0070202", "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ], "weight": 0.0 }, { "disease_id": "DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070247", "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ], "weight": 0.0 }, { "disease_id": "DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070248", "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ], "weight": 0.0 }, { "disease_id": "DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070370", "evidence": [ { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ], "weight": 0.0 }, { "disease_id": "DOID:0080299", "name": "partial lipodystrophy", "description": "A lipodystrophy that is characterized by partial loss of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:0080299", "evidence": [ { "id": "0080299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080299" } ], "weight": 0.0 }, { "disease_id": "DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0080334", "evidence": [ { "id": "0080334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ], "weight": 0.0 }, { "disease_id": "DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.", "url": "https://disease-ontology.org/term/DOID:0081128", "evidence": [ { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ], "weight": 0.0 }, { "disease_id": "DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110156", "evidence": [ { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ], "weight": 0.0 }, { "disease_id": "DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0110425", "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ], "weight": 0.0 }, { "disease_id": "DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110640", "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ], "weight": 0.0 }, { "disease_id": "DOID:0111450", "name": "progressive myoclonus epilepsy 9", "description": "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0111450", "evidence": [ { "id": "0111450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111450" } ], "weight": 0.0 }, { "disease_id": "DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111584", "evidence": [ { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ], "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:11712", "name": "lipoatrophic diabetes mellitus", "description": "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.", "url": "https://disease-ontology.org/term/DOID:11712", "evidence": [ { "id": "11712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11712" } ], "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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:5688", "name": "Werner syndrome", "description": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, 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scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0111441", "evidence": [ { "id": "0111441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111441" } ], "weight": 0.0 }, { "disease_id": "DOID:0111580", "name": "Behr syndrome", "description": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.", "url": "https://disease-ontology.org/term/DOID:0111580", "evidence": [ { "id": "0111580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111580" } ], "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 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"https://www.alliancegenome.org/disease/DOID:1070" } ], "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: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: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: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:5723", "name": "optic atrophy", "description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.", "url": "https://disease-ontology.org/term/DOID:5723", "evidence": [ { "id": "5723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5723" } ], "weight": 0.0 }, { "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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "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 } ], "biological_process": [ { "name": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "A1Z9N0", "url": "https://www.uniprot.org/uniprotkb/A1Z9N0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P35004-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 253, "chemical_mass": 25693.0, "gene_names": "betaTry;BetaTry;CG18211;DmBetaTry;Dmel\\CG18211;Dmel_CG18211;SP119;Try;betaTry;beta", "protein_name": "Trypsin beta", "disease": [ { "disease_id": "DOID:0110057", "name": "amelogenesis imperfecta type 2A1", "description": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110057", "evidence": [ { "id": "0110057", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110057" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" }, { "name": "serine hydrolase activity", "id": "GO:0017171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017171", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P35004", "url": "https://www.uniprot.org/uniprotkb/P35004" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P47948-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 155, "chemical_mass": 17883.0, "gene_names": "TpnC47D;BcDNA:RE34610;CG9073;DmTnC2;DmTpnC47D;DmTpnCIb;Dmel\\CG9073;Dmel_CG9073;TNC47D;TNC;TPnC47D;TnC47D;TnC;Tnc3;TpnC Ib;TpnC47D;TpnCIb", "protein_name": "Troponin C, isoform 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P47948", "url": "https://www.uniprot.org/uniprotkb/P47948" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A8DYE2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2023, "chemical_mass": 225538.0, "gene_names": "Trpm;BcDNA:GH04950;CG16805;CG30078;CG30079;CG34123;CG34187;CG44240;DmTRPM;Dmel\\CG44240;Dmel_CG44240;TRPM;TrpM;Trpm;dTRPM;mdcds_11815;trpm", "protein_name": "Transient receptor potential cation channel trpm", "disease": [ { "disease_id": "DOID:0050534", "name": "congenital stationary night blindness", "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0050824", "name": "sinoatrial node disease", "description": "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.", "url": "https://disease-ontology.org/term/DOID:0050824", "evidence": [ { "id": "0050824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050824" } ], "weight": 0.0 }, { "disease_id": "DOID:0060246", "name": "MASA syndrome", "description": "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.", "url": "https://disease-ontology.org/term/DOID:0060246", "evidence": [ { "id": "0060246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060246" } ], "weight": 0.0 }, { "disease_id": "DOID:0060394", "name": "chromosome 15q13.3 microdeletion syndrome", "description": "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.", "url": "https://disease-ontology.org/term/DOID:0060394", "evidence": [ { "id": "0060394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060394" } ], "weight": 0.0 }, { "disease_id": "DOID:0060883", "name": "intestinal hypomagnesemia 1", "description": "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.", "url": "https://disease-ontology.org/term/DOID:0060883", "evidence": [ { "id": "0060883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060883" } ], "weight": 0.0 }, { "disease_id": "DOID:0110867", "name": "congenital stationary night blindness 1C", "description": "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.", "url": "https://disease-ontology.org/term/DOID:0110867", "evidence": [ { "id": "0110867", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110867" } ], "weight": 0.0 }, { "disease_id": "DOID:0111246", "name": "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", "description": "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.", "url": "https://disease-ontology.org/term/DOID:0111246", "evidence": [ { "id": "0111246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111246" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:896", "name": "metal metabolism disorder", "description": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.", "url": "https://disease-ontology.org/term/DOID:896", "evidence": [ { "id": "896", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:896" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "A8DYE2", "url": "https://www.uniprot.org/uniprotkb/A8DYE2" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": 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"database": "UniProtKB", "id": "A1ZBH7", "url": "https://www.uniprot.org/uniprotkb/A1ZBH7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1218, "chemical_mass": 132396.0, "gene_names": "hppy;CG7097/hppy;CG7097;Dmel\\CG7097;Dmel_CG7097;EP-704;GLK/KHS1;Hppy;KHS1;MAP4K3;anon-WO0153538.68;hppy;l(2)SH1261;l(2)SH2 1261", "protein_name": "non-specific serine/threonine protein kinase", "disease": [ { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the 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"DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. 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It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060549", "evidence": [ { "id": "0060549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060549" } ], "weight": 0.0 }, { "disease_id": "DOID:0060550", "name": "ablepharon macrostomia syndrome", "description": "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060550", "evidence": [ { "id": "0060550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060550" } ], "weight": 0.0 }, { "disease_id": "DOID:0061010", "name": "craniosynostosis 1", "description": "A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0061010", "evidence": [ { "id": "0061010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061010" } ], "weight": 0.0 }, { "disease_id": "DOID:0080538", "name": "Sweeney-Cox syndrome", "description": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.", "url": "https://disease-ontology.org/term/DOID:0080538", "evidence": [ { "id": "0080538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080538" } ], "weight": 0.0 }, { "disease_id": "DOID:12960", "name": "acrocephalosyndactylia", "description": "A synostosis that results_in craniosynostosis and syndactyly.", "url": "https://disease-ontology.org/term/DOID:12960", "evidence": [ { "id": "12960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12960" } ], "weight": 0.0 }, { "disease_id": "DOID:14768", "name": "Saethre-Chotzen syndrome", "description": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:14768", "evidence": [ { "id": "14768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14768" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of striated muscle tissue development", "id": "GO:0016202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016202", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesodermal cell fate specification", "id": "GO:0007501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007501", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesodermal cell fate commitment", "id": "GO:0001710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001710", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "ectoderm and mesoderm interaction", "id": "GO:0007499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007499", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "muscle cell development", "id": "GO:0055001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055001", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "ventral furrow formation", "id": "GO:0007370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007370", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "gastrulation involving germ band extension", "id": "GO:0010004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010004", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": 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sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10627", "url": "https://www.uniprot.org/uniprotkb/P10627" } ], 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"batch.fruitfly.11" }, { "uniprot_canonical_ac": "A0A0C4DHF9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 290, "chemical_mass": 31655.0, "gene_names": "Eglp2;Aqp17664;CG17664;Dmel\\CG17664;Dmel_CG17664;Eglp 2;Eglp2", "protein_name": "", "disease": [ { "disease_id": "DOID:0080122", "name": "Alpers-Huttenlocher syndrome", "description": "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26.", "url": 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"url": "https://disease-ontology.org/term/DOID:0110251", "evidence": [ { "id": "0110251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110251" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111707", "name": "Bothnian type palmoplantar keratoderma", "description": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure 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advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to 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"disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1432", "name": "blindness", "description": "An eye disease characterized by a lack or loss of vision.", "url": "https://disease-ontology.org/term/DOID:1432", "evidence": [ { "id": "1432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1432" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1837", "name": "diabetic ketoacidosis", "description": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:1837", "evidence": [ { "id": "1837", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1837" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:3275", "name": "thymoma", "description": "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.", "url": "https://disease-ontology.org/term/DOID:3275", "evidence": [ { "id": "3275", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3275" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:636", "name": "central pontine myelinolysis", "description": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.", "url": "https://disease-ontology.org/term/DOID:636", "evidence": [ { "id": "636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:636" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 }, { "disease_id": "DOID:9428", "name": "intracranial hypertension", "description": "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.", "url": "https://disease-ontology.org/term/DOID:9428", "evidence": [ { "id": "9428", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9428" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "A0A0C4DHF9", "url": "https://www.uniprot.org/uniprotkb/A0A0C4DHF9" } ], "pmid": "" } 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"name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000775", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" } ], "biological_process": [ { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion, centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" }, { "name": 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"molecular_function": [ { "name": "SMC family protein binding", "id": "GO:0043221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043221", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B6JUP5-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "B6JUP5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B6JUP5" } ] } ] }, { "uniprot_canonical_ac": "B6JUP5-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Thr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B6JUP5", "url": "https://www.uniprot.org/uniprotkb/B6JUP5" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "B6JUP5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/B6JUP5" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "M9MSG8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9MSG8", "url": "https://www.uniprot.org/uniprotkb/M9MSG8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2551, "chemical_mass": 289447.0, "gene_names": "Piezo;CG18103;CG31608;CG44122;CG8486;DmPIEZO;DmPiezo;Dmel\\CG44122;Dmel_CG44122;Dmpiezo;OrfKD;Piezo;anon-EST:Liang-1.32;clone 1.32;fos28F;fos500;piezo", "protein_name": "Piezo-type 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"evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "formation of cytoplasmic translation initiation complex", "id": "GO:0001732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001732", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "translation initiation factor binding", "id": "GO:0031369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031369", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "metal-dependent deubiquitinase activity", "id": "GO:0140492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140492", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" } ], "cellular_component": [ { "name": "eukaryotic 43S preinitiation complex", "id": "GO:0016282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016282", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic 48S preinitiation complex", "id": "GO:0033290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033290", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex, eIF3m", "id": "GO:0071541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071541", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 3 complex", "id": "GO:0005852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005852", "evidence": [ { "database": "UniProtKB", "id": "A1Z6K7", "url": "https://www.uniprot.org/uniprotkb/A1Z6K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A1Z6L1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 340, "chemical_mass": 36983.0, "gene_names": "tomboy40;CG8330;Dmel\\CG8330;Tomboy40;tomboy40", "protein_name": "Mitochondrial import receptor subunit TOM40 homolog 2", "disease": [ { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized 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"database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "pore complex", "id": "GO:0046930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046930", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "mitochondrial outer membrane translocase complex", "id": "GO:0005742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005742", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "molecular_function": [ { "name": "porin activity", "id": "GO:0015288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015288", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "A1Z6L1", "url": "https://www.uniprot.org/uniprotkb/A1Z6L1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A1Z713-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z713", "url": "https://www.uniprot.org/uniprotkb/A1Z713" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 3321, "chemical_mass": 374545.0, "gene_names": "Vps13;BEST:LD02743;CG2093;Dmel\\CG2093;Vps13", "protein_name": "Intermembrane lipid transfer protein Vps13", "disease": [ { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050766", "name": "choreaacanthocytosis", "description": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.", "url": "https://disease-ontology.org/term/DOID:0050766", "evidence": [ { "id": "0050766", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050766" } ], "weight": 0.0 }, { "disease_id": "DOID:0060896", "name": "Parkinson's disease 23", "description": "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0060896", "evidence": [ { "id": "0060896", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060896" } ], "weight": 0.0 }, { "disease_id": "DOID:0111590", "name": "Cohen syndrome", "description": "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, 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"description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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 } ], "biological_process": [ { "name": "protein retention in Golgi apparatus", "id": "GO:0045053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045053", "evidence": [ { "database": "UniProtKB", "id": "A1Z713", "url": 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"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": 920, "start_aa": "Thr", "end_pos": 920, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr920", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A1Z784-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2482, "chemical_mass": 278596.0, "gene_names": "Acc;A1Z784_DROME;ACC;ACoT;Acc;CG11198;CG8723;DmACC;Dmel\\CG11198;Dmel_CG11198;FBgn0043811;acc;dACC", "protein_name": "", "disease": [ { "disease_id": "DOID:0060404", "name": "chromosome 17q12 deletion syndrome", "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.", "url": "https://disease-ontology.org/term/DOID:0060404", "evidence": [ { "id": "0060404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060404" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": 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"https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "acetyl-CoA carboxylase activity", "id": "GO:0003989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003989", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "biotin carboxylase activity", "id": "GO:0004075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004075", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" } ], "biological_process": [ { "name": "acetyl-CoA metabolic process", "id": "GO:0006084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006084", "evidence": [ { "database": "UniProtKB", "id": "A1Z784", "url": "https://www.uniprot.org/uniprotkb/A1Z784" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": 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"name": "NAD+-protein-lysine ADP-ribosyltransferase activity", "id": "GO:0140804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140804", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network", "id": "GO:0071782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071782", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "biological_process": [ { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAG4-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Tyr199", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes Sec body formation.", "evidence": [ { "database": "UniProtKB", "id": "A1ZAG4", "url": "https://www.uniprot.org/uniprotkb/A1ZAG4" }, { "database": "PubMed", "id": "27874829", "url": 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"TIL 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": "A1ZAJ3", "url": "https://www.uniprot.org/uniprotkb/A1ZAJ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A1ZAJ3", "url": "https://www.uniprot.org/uniprotkb/A1ZAJ3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A1ZAK1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A1ZAK1", "url": "https://www.uniprot.org/uniprotkb/A1ZAK1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1007, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0160240", "evidence": [ { "database": "UniProtKB", "id": "A1ZAK1", "url": "https://www.uniprot.org/uniprotkb/A1ZAK1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1ZAK1-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Thr92", "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": 92, "start_aa": "Thr", "end_pos": 92, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr92", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "A1ZAK8-1", "species": [ { "name": "Drosophila 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"url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "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: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: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: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: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:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "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": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "ATP-binding cassette (ABC) transporter complex", "id": "GO:0043190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "renal tubular secretion", "id": "GO:0097254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097254", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q00449", "url": "https://www.uniprot.org/uniprotkb/Q00449" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00449-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "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": 101, "start_aa": "Asn", "end_pos": 101, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn101", "evidence": [ { "id": "Q00449", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00449#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P49869-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1073, "chemical_mass": 116992.0, "gene_names": "Hr38;38E.3;38E.7;CG1864;DHR38;Dhr38;Dmel\\CG1864;Dmel_CG1864;HR38;Hr38;NR4A4;dHR38;dhr38;hr38;l(2)02306", "protein_name": "Probable nuclear hormone receptor HR38", "disease": [ { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of 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:4549", "name": "extraskeletal myxoid chondrosarcoma", "description": "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern.", "url": "https://disease-ontology.org/term/DOID:4549", "evidence": [ { "id": "4549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4549" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID: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:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cuticle development", "id": "GO:0042335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042335", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "cellular response to corticotropin-releasing hormone stimulus", "id": "GO:0071376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071376", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" }, { "name": "regulation of adult chitin-containing cuticle pigmentation", "id": "GO:0048082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048082", "evidence": [ { "database": "UniProtKB", "id": "P49869", "url": "https://www.uniprot.org/uniprotkb/P49869" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": 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"GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "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": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "central complex development", "id": "GO:0048036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048036", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "R8 cell fate commitment", "id": "GO:0007460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007460", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "negative regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045886", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" }, { "name": "basal part of cell", "id": "GO:0045178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045178", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q0KHQ5-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Lys56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Induces the formation of microtubule-rich protrusions. Abolishes repression of Yki. Causes an isoform A-like cellular phenotype with development of filopodia-like structures.", "evidence": [ { "database": "UniProtKB", "id": "Q0KHQ5", "url": "https://www.uniprot.org/uniprotkb/Q0KHQ5" }, { "database": "PubMed", "id": "25589578", "url": "https://glygen.org/publication/PubMed/25589578" }, { "database": "PubMed", "id": "20647372", "url": "https://glygen.org/publication/PubMed/20647372" }, { "database": "PubMed", "id": "22075148", "url": "https://glygen.org/publication/PubMed/22075148" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "M9NE34-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9NE34", "url": "https://www.uniprot.org/uniprotkb/M9NE34" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 103, "chemical_mass": 11536.0, "gene_names": "Dmel\\CG43293;CG43293;Dmel\\CG43293;Dmel_CG43293", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P10180-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 2175, "chemical_mass": 233629.0, "gene_names": "ct;BcDNA:GH10590;CG11387;CT;CUT;Ct;Cut;Dmel\\CG11387;Dmel_CG11387;ct;kf;l(1)7Ba;l(1)7Bb;l(1)VE614", "protein_name": "Homeobox protein cut", "disease": [ { "disease_id": "DOID:0112203", "name": "developmental and epileptic encephalopathy 67", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12.", "url": "https://disease-ontology.org/term/DOID:0112203", "evidence": [ { "id": "0112203", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112203" } ], "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:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:3892", "name": "insulinoma", "description": "A pancreatic cystadenoma that is characterized by the overproduction of insulin.", "url": "https://disease-ontology.org/term/DOID:3892", "evidence": [ { "id": "3892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3892" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 } ], "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": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "dendrite arborization", "id": "GO:0140059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140059", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "antennal development", "id": "GO:0007469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007469", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "formation of a compartment boundary", "id": "GO:0060288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060288", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "open tracheal system development", "id": "GO:0007424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007424", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "Malpighian tubule morphogenesis", "id": "GO:0007443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007443", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "imaginal disc-derived wing margin morphogenesis", "id": "GO:0008587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008587", "evidence": [ { "database": "UniProtKB", "id": "P10180", "url": "https://www.uniprot.org/uniprotkb/P10180" } ], "pmid": "" }, { "name": "spiracle morphogenesis, open tracheal system", "id": 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"sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P54357-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P54357", "url": "https://www.uniprot.org/uniprotkb/P54357" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 147, "chemical_mass": 16613.0, "gene_names": "Mlc-c;CG3201;DmMLC_C;Dmel\\CG3201;Dmel_CG3201;ELC1;ELC;Mlc-c;MyoII;mlc-c;nmELC", "protein_name": "Myosin-2 essential light chain", "disease": [ { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { 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"https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "pole plasm mRNA localization", "id": "GO:0019094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019094", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" }, { "name": "multivesicular body fusion to apical plasma membrane", "id": "GO:0098866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098866", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P02828-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02828", "url": "https://www.uniprot.org/uniprotkb/P02828" }, { "database": "PubMed", "id": "17372656", "url": 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"Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1191, "chemical_mass": 124533.0, "gene_names": "ush;CG2762;Dmel\\CG2762;Dmel_CG2762;FOG;USH;Ush;ZFPM2;dFOG;l(2)19;u-sh;ushaped;ush", "protein_name": "Zinc finger protein ush", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0080169", "name": "tricuspid atresia", "description": "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.", "url": "https://disease-ontology.org/term/DOID:0080169", "evidence": [ { "id": "0080169", "database": "AGR", "url": 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{ "name": "lymph gland plasmatocyte differentiation", "id": "GO:0035169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035169", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "lymph gland crystal cell differentiation", "id": "GO:0035170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035170", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "negative regulation of hemocyte differentiation", "id": "GO:0045611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045611", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], "pmid": "" }, { "name": "germ-band shortening", "id": "GO:0007390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007390", "evidence": [ { "database": "UniProtKB", "id": "Q9VPQ6", "url": "https://www.uniprot.org/uniprotkb/Q9VPQ6" } ], 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"P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "ovarian fusome organization", "id": "GO:0030723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030723", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "fusome organization", "id": "GO:0045478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045478", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "germ-line cyst formation", "id": "GO:0048134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048134", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "maintenance of RNA location", "id": "GO:0051237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051237", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "pole cell formation", "id": "GO:0007279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007279", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "oocyte nucleus migration involved in oocyte dorsal/ventral axis specification", "id": "GO:0007312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007312", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "cellularization", "id": "GO:0007349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007349", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "mushroom body development", "id": "GO:0016319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016319", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "melanotic encapsulation of foreign target", "id": "GO:0035011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035011", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "lumen formation, open tracheal system", "id": "GO:0035149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035149", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "positive regulation of neuron remodeling", "id": "GO:1904801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904801", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "developmental process involved in reproduction", "id": "GO:0003006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003006", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "establishment of spindle localization", "id": "GO:0051293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051293", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "organelle transport along microtubule", "id": "GO:0072384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "maintenance of location", "id": "GO:0051235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051235", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045169", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P37276", "url": "https://www.uniprot.org/uniprotkb/P37276" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P37276-1", "start_pos": "3157", "end_pos": "3157", "site_lbl": "Thr3157", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": 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"url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "convergent extension involved in gastrulation", "id": "GO:0060027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060027", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "establishment or maintenance of cytoskeleton polarity involved in gastrulation", "id": "GO:0003380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003380", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "mesectoderm development", "id": "GO:0048383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048383", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "apical constriction involved in gastrulation", "id": "GO:0003384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003384", 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"database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "molecular_function": [ { "name": "D5 dopamine receptor binding", "id": "GO:0031752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031752", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P25157", "url": "https://www.uniprot.org/uniprotkb/P25157" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P42271-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 457, "chemical_mass": 51296.0, "gene_names": "gammaTub37C;CG17566;D.m.GAMMA-37C;Dmel\\CG17566;Dmel_CG17566;GTU88*;PL10;Rb1011;TW1;Tub37CD;Tub37C;Tub3B;TubG2;TubG37C;fs(2)TW1;fs(2)TWI;fsTW1;g-Tubulin;gamma Tub37CD;gamma 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"database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "attachment of meiotic spindle microtubules to kinetochore", "id": "GO:0051316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051316", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "mitotic spindle-templated microtubule nucleation", "id": "GO:0090221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090221", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "nuclear chromosome segregation", "id": "GO:0098813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098813", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" }, { "name": "nuclear division", "id": "GO:0000280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000280", 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"" }, { "name": "gamma-tubulin ring complex", "id": "GO:0000931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000931", "evidence": [ { "database": "UniProtKB", "id": "P42271", "url": "https://www.uniprot.org/uniprotkb/P42271" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P46824-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P46824", "url": "https://www.uniprot.org/uniprotkb/P46824" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 508, "chemical_mass": 58044.0, "gene_names": "Klc;CG5433;DKLC;Dmel\\CG5433;Dmel_CG5433;KLC;Kinesin;Klc;kinesin;klc", "protein_name": "Kinesin light chain", "disease": [ { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing 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damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "Q24106", "url": "https://www.uniprot.org/uniprotkb/Q24106" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": 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} ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain 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"evidence": [ { "database": "UniProtKB", "id": "O61443", "url": "https://www.uniprot.org/uniprotkb/O61443" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O61443", "url": "https://www.uniprot.org/uniprotkb/O61443" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "O61443", "url": "https://www.uniprot.org/uniprotkb/O61443" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "O61443", "url": "https://www.uniprot.org/uniprotkb/O61443" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 622, "chemical_mass": 71300.0, "gene_names": "Lam;2459;74/76;CG6944;D5;DM[[O]];D[[m0]];Dm(0);Dm0;Dm1;Dm2;DmLamin;DmO;Dm[[0]];Dm[[1]];Dm[[2]];Dm[[mit]];Dm[[o]];Dmel\\CG6944;Dmo;Dm;LAM;Lam Dm0;Lam Dm[[0]];Lam(Dm0);LamB;LamDm0;LamDmO;LamDm[[0]];LamDm[[o]];LamDm;Lam[[Dm0]];Lamin A;Lamin B;Lamin Dm0;Lamin Dm[[0]];Lamin-B1;LaminA;LaminB;Lam;egk1;jf27;l(2)04643;l(2)25Ec;l(2)gdh-7;l(2)gdh7;l(2)jf27;lamB;lamDm0;lamDm[[0]];lamin B;lamin Dm0;lamin DmO;lamin Dm[[0]];lamin-B;lamin;lam;misg;nlam", "protein_name": "Lamin", "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 the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0050431", "evidence": [ { "id": "0050431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050431" } ], "weight": 0.0 }, { "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:0050557", "name": "congenital muscular dystrophy", "description": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.", "url": "https://disease-ontology.org/term/DOID:0050557", "evidence": [ { "id": "0050557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050557" } ], "weight": 0.0 }, { "disease_id": "DOID:0050820", "name": "atrioventricular block", "description": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.", "url": "https://disease-ontology.org/term/DOID:0050820", "evidence": [ { "id": "0050820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050820" } ], "weight": 0.0 }, { "disease_id": "DOID:0051037", "name": "autosomal dominant primary microcephaly 26", "description": "A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.", "url": "https://disease-ontology.org/term/DOID:0051037", "evidence": [ { "id": "0051037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051037" } ], "weight": 0.0 }, { "disease_id": "DOID:0051038", "name": "autosomal dominant primary microcephaly 27", "description": "A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0051038", "evidence": [ { "id": "0051038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051038" } ], "weight": 0.0 }, { "disease_id": "DOID:0060785", "name": "typical adult-onset autosomal dominant demyelinating leukodystrophy", "description": "An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes.", "url": "https://disease-ontology.org/term/DOID:0060785", "evidence": [ { "id": "0060785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060785" } ], "weight": 0.0 }, { "disease_id": "DOID:0070202", "name": "familial partial lipodystrophy type 2", "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0070202", "evidence": [ { "id": "0070202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070202" } ], "weight": 0.0 }, { "disease_id": "DOID:0070247", "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 2", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070247", "evidence": [ { "id": "0070247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070247" } ], "weight": 0.0 }, { "disease_id": "DOID:0070248", "name": "autosomal recessive Emery-Dreifuss muscular dystrophy 3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070248", "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ], "weight": 0.0 }, { "disease_id": "DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070370", "evidence": [ { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ], "weight": 0.0 }, { "disease_id": "DOID:0080299", "name": "partial lipodystrophy", "description": "A lipodystrophy that is characterized by partial loss of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:0080299", "evidence": [ { "id": "0080299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080299" } ], "weight": 0.0 }, { "disease_id": "DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0080334", "evidence": [ { "id": "0080334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ], "weight": 0.0 }, { "disease_id": "DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.", "url": "https://disease-ontology.org/term/DOID:0081128", "evidence": [ { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ], "weight": 0.0 }, { "disease_id": "DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110156", "evidence": [ { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ], "weight": 0.0 }, { "disease_id": "DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0110425", "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ], "weight": 0.0 }, { "disease_id": "DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110640", "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ], "weight": 0.0 }, { "disease_id": "DOID:0111450", "name": "progressive myoclonus epilepsy 9", "description": "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0111450", "evidence": [ { "id": "0111450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111450" } ], "weight": 0.0 }, { "disease_id": "DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111584", "evidence": [ { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ], "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:11712", "name": "lipoatrophic diabetes mellitus", "description": "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.", "url": "https://disease-ontology.org/term/DOID:11712", "evidence": [ { "id": "11712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11712" } ], "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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:5688", "name": "Werner syndrome", "description": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.", "url": "https://disease-ontology.org/term/DOID:5688", "evidence": [ { "id": "5688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5688" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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 } ], "biological_process": [ { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "mitotic nuclear membrane reassembly", "id": "GO:0007084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007084", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "gonad morphogenesis", "id": "GO:0035262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035262", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear membrane organization", "id": "GO:0071763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071763", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "chitin-based cuticle development", "id": "GO:0040003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040003", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear envelope lumen", "id": "GO:0005641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005641", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "nuclear lamina", "id": "GO:0005652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005652", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "lamin filament", "id": "GO:0005638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005638", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P08928", "url": "https://www.uniprot.org/uniprotkb/P08928" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": 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H2av;5499;CG5499;Dmel\\CG5499;H2A.F/Z;H2A.V;H2A.X;H2A.Z;H2AV_DROM;H2AV;H2AX;H2AZ;H2AvD;H2Av;H2A;H2a.V;H2avD;H2av;HIS2AVD;HIS2AV;HIS;His2AV;His2AvD;His2Av;His2A;His2aV;His2av;His2;HisH2Av;Hist2av;Hist;His;P-H2Av;dHis2Av;gamma-H2AV;gamma-H2AvD;gamma-H2Av;gamma-HIS2AV;gamma-His2Av;gammaH2AV;gammaH2Av;gammaH2Ax;gammaH2ax;h2AvD;his2Av;his2av;his;l(3)05146;l(3)810;l(3)97Dd;l(3)L1602", "protein_name": "Histone H2A.v", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P08985", "url": "https://www.uniprot.org/uniprotkb/P08985" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P08985", "url": "https://www.uniprot.org/uniprotkb/P08985" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", 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brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], 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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: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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "RISC complex assembly", "id": "GO:0070922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070922", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "membrane bending", "id": "GO:0097753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097753", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "late endosomal microautophagy", "id": "GO:0061738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061738", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated post-transcriptional gene silencing", "id": "GO:0035194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035194", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cellular response to topologically incorrect protein", "id": "GO:0035967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035967", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "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": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "ATP-dependent protein folding chaperone", "id": "GO:0140662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140662", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" }, { "name": "precatalytic spliceosome", "id": "GO:0071011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071011", "evidence": [ { "database": "UniProtKB", "id": "P11147", "url": "https://www.uniprot.org/uniprotkb/P11147" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P11147-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Asn35", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 35, "start_aa": "Asn", "end_pos": 35, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn35", "evidence": [ { "id": "P11147", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P11147#ptm_processing" }, { "id": "17893096", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17893096" } ] } ] }, { "uniprot_canonical_ac": "P11147-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Thr646", "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": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P11584-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 846, "chemical_mass": 92656.0, "gene_names": "mys;BetaPS-Int;BetaPS;CG1560;CT40473;Dmel\\CG1560;Dmel_CG1560;EM28;Integrin beta;ItgbPS;MAb6G11;Mys;PS integrin;PS[[beta]];PSbeta;PS;bPS;b[[PS]];beta integrin;beta-Integrin;beta-Int;beta-PS-integrin;beta-PS;beta-integrin;beta-int;beta1;betaInt;betaPS Int;betaPS integrin;betaPS-Integrin;betaPS-integrin;betaPS1;betaPS;beta[[PS]]-integrin;beta[[PS]];beta[[P]]S;beta[[mys]];betamys;integrin beta[[PS]];l(1)7Db;l(1)7Dn;l(1)93p;l(1)968;l(1)DA551;l(1)EM28;l(1)G0233;l(1)G0281;l(1)mys;mys;nj42;olfC", "protein_name": "Integrin beta-PS", "disease": [ { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060691", "name": "platelet-type bleeding disorder 16", "description": "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:0060691", "evidence": [ { "id": "0060691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060691" } ], "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:0110064", "name": "amelogenesis imperfecta type 1H", "description": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0110064", "evidence": [ { "id": "0110064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110064" } ], "weight": 0.0 }, { "disease_id": "DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.", "url": "https://disease-ontology.org/term/DOID:0110910", "evidence": [ { "id": "0110910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110910" } ], "weight": 0.0 }, { "disease_id": "DOID:10487", "name": "Hirschsprung's disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "weight": 0.0 }, { "disease_id": "DOID:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:2219", "name": "Glanzmann's thrombasthenia", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.", "url": "https://disease-ontology.org/term/DOID:2219", "evidence": [ { "id": "2219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6612", "name": "leukocyte adhesion deficiency", "description": "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system.", "url": "https://disease-ontology.org/term/DOID:6612", "evidence": [ { "id": "6612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6612" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "biological_process": [ { "name": "central nervous system morphogenesis", "id": "GO:0021551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021551", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell adhesion mediated by integrin", "id": "GO:0033627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033627", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0016339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016339", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "larval heart development", "id": "GO:0007508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007508", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "imaginal disc-derived male genitalia morphogenesis", "id": "GO:0048803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048803", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "border follicle cell migration", "id": "GO:0007298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007298", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "germ-band extension", "id": "GO:0007377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007377", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "ventral cord development", "id": "GO:0007419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007419", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "imaginal disc-derived wing morphogenesis", "id": "GO:0007476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007476", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "pmid": "" }, { "name": "flight behavior", "id": "GO:0007629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007629", "evidence": [ { "database": "UniProtKB", "id": "P11584", "url": "https://www.uniprot.org/uniprotkb/P11584" } ], "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": "P11584", "url": 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arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14766", "name": "renal agenesis", "description": "A renal disease that is characterized by the failure of one or both kidneys to develop.", "url": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P12080", "url": "https://www.uniprot.org/uniprotkb/P12080" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": 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that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13628", "name": "favism", "description": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.", "url": "https://disease-ontology.org/term/DOID:13628", "evidence": [ { "id": "13628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13628" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 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"evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of 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"9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by 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"P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12646", "url": "https://www.uniprot.org/uniprotkb/P12646" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P13238-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 168, "chemical_mass": 16771.0, "gene_names": "Vm26Ab;CG9046;DIM 29;Dm sV23;Dmel\\CG9046;Dmel_CG9046;Sv23;TU-4;VM26A.2;VM26AB;Vm26Ab;Vm26A;fs(2)QJ42;sV23;sV26;sv23", "protein_name": "Vitelline membrane protein Vm26Ab", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" } ], "pmid": "" }, { "name": "vitelline envelope", "id": "GO:0060388", 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Slight reduction in egg turgidity; when associated with S-140.", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" }, { "database": "PubMed", "id": "20832396", "url": "https://glygen.org/publication/PubMed/20832396" } ] } ] }, { "uniprot_canonical_ac": "P13238-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Cys131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of egg turgidity. Females are sterile.", "evidence": [ { "database": "UniProtKB", "id": "P13238", "url": "https://www.uniprot.org/uniprotkb/P13238" }, { "database": "PubMed", "id": "20832396", "url": "https://glygen.org/publication/PubMed/20832396" } ] } ] }, { "uniprot_canonical_ac": "P13238-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Cys140", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No appreciable effect on egg turgidity. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030707", "evidence": [ { "database": "UniProtKB", "id": "P13468", "url": "https://www.uniprot.org/uniprotkb/P13468" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "P14318-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": "https://www.uniprot.org/uniprotkb/P14318" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 184, "chemical_mass": 20190.0, "gene_names": "Mp20;CG4696;DMMP20;Dmel\\CG4696;Dmmp20;MP20;Mp20;Tpn;mp20", "protein_name": "Muscle-specific protein 20", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P14318", "url": 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"name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A 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The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "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:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:11759", "name": "hypochromic anemia", "description": "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. 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"url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "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: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: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: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: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:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "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": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "ATP-binding cassette (ABC) transporter complex", "id": "GO:0043190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043190", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "pleated septate junction", "id": "GO:0005919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005919", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "establishment of glial blood-brain barrier", "id": "GO:0060857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060857", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "renal tubular secretion", "id": "GO:0097254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097254", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q00748", "url": "https://www.uniprot.org/uniprotkb/Q00748" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q00748-1", "start_pos": "103", "end_pos": "103", "site_lbl": "Asn103", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q00748#ptm_processing" }, { "id": "17893096", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17893096" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q01637-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q01637", "url": "https://www.uniprot.org/uniprotkb/Q01637" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 493, "chemical_mass": 53419.0, "gene_names": "r-l;CG3593;Dmel\\CG3593;OMPDC;OPRT;UMPS;r-l;ral", "protein_name": "Uridine 5'-monophosphate synthase", "disease": [ { "disease_id": "DOID:0050833", "name": "orotic aciduria", "description": "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.", "url": "https://disease-ontology.org/term/DOID:0050833", "evidence": [ { "id": "0050833", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050833" } ], "weight": 0.0 }, { "disease_id": "DOID:653", "name": "purine-pyrimidine metabolic disorder", "description": "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.", "url": 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novo' pyrimidine nucleobase biosynthetic process", "id": "GO:0006207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006207", "evidence": [ { "database": "UniProtKB", "id": "Q01637", "url": "https://www.uniprot.org/uniprotkb/Q01637" } ], "pmid": "" }, { "name": "'de novo' UMP biosynthetic process", "id": "GO:0044205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044205", "evidence": [ { "database": "UniProtKB", "id": "Q01637", "url": "https://www.uniprot.org/uniprotkb/Q01637" } ], "pmid": "" }, { "name": "pyrimidine nucleobase biosynthetic process", "id": "GO:0019856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019856", "evidence": [ { "database": "UniProtKB", "id": "Q01637", "url": "https://www.uniprot.org/uniprotkb/Q01637" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q01642-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", 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"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "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": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "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": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "NELF complex", "id": "GO:0032021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032021", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "polytene chromosome puff", "id": "GO:0005703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005703", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" }, { "name": "polytene chromosome interband", "id": "GO:0005705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005705", "evidence": [ { "database": "UniProtKB", "id": "Q24134", "url": "https://www.uniprot.org/uniprotkb/Q24134" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q24143-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 723, "chemical_mass": 81029.0, "gene_names": "Hr96;CG11783;DHR96;Dhr96;Dmel\\CG11783;HR96;Hr96;NR1J1;dHR96", "protein_name": "Nuclear hormone receptor HR96", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "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:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080883", "name": "vitamin D-dependent rickets", "description": "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia.", "url": "https://disease-ontology.org/term/DOID:0080883", "evidence": [ { "id": "0080883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080883" } ], "weight": 0.0 }, { "disease_id": "DOID:0080884", "name": "vitamin D-dependent rickets type 2A", "description": "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.", "url": "https://disease-ontology.org/term/DOID:0080884", "evidence": [ { "id": "0080884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080884" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110276" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "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:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "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": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q24143", "url": "https://www.uniprot.org/uniprotkb/Q24143" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q24169-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 460, "chemical_mass": 52115.0, "gene_names": "Orc5;BG:DS00941.8;CG7833;D-orc5;DmORC5;DmOrc5;Dmel\\CG7833;ORC5;ORC;Orc5;br39;dORC5;l(2)34Df;l(2)br39;orc5", "protein_name": "Origin recognition complex subunit 5", "disease": [], "molecular_function": [ { "name": "DNA replication origin binding", "id": "GO:0003688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003688", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "nuclear origin of replication recognition complex", "id": "GO:0005664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005664", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "mitotic chromosome condensation", "id": "GO:0007076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007076", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "DNA replication initiation", "id": "GO:0006270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006270", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" }, { "name": "DNA-templated DNA replication", "id": "GO:0006261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006261", "evidence": [ { "database": "UniProtKB", "id": "Q24169", "url": "https://www.uniprot.org/uniprotkb/Q24169" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q24314-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1002, "chemical_mass": 115334.0, "gene_names": "dor;CG3093;DOR;Deep-orange;Dmel\\CG3093;Dof;Dor;EG:171E4.1;FI09617;Vps18/dor;Vps18;dor1;dor;l(1)2Be;l(1)2Bw;l(1)76;l(1)7;vps18", "protein_name": "Vacuolar protein sorting-associated protein 18 homolog", "disease": [ { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "eye pigment granule organization", "id": "GO:0008057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008057", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "regulation of SNARE complex assembly", "id": "GO:0035542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035542", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q24314", "url": "https://www.uniprot.org/uniprotkb/Q24314" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "meiotic chromosome separation", "id": "GO:0051307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051307", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of hippo signaling", "id": "GO:0035330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035330", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of organelle assembly", "id": "GO:1902115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902115", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "axis specification", "id": "GO:0009798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009798", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "hippo signaling", "id": "GO:0035329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035329", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of gliogenesis", "id": "GO:0014013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014013", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "sperm individualization", "id": "GO:0007291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007291", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of hippo signaling", "id": "GO:0035332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035332", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "male meiosis cytokinesis", "id": "GO:0007112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007112", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye morphogenesis", "id": "GO:0001745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001745", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye photoreceptor cell differentiation", "id": "GO:0001751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001751", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "pole plasm mRNA localization", "id": "GO:0019094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019094", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "R8 cell fate specification", "id": "GO:0045464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045464", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of compound eye retinal cell programmed cell death", "id": "GO:0046669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046669", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "R8 cell development", "id": "GO:0045463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045463", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "RNA localization", "id": "GO:0006403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006403", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "pole plasm assembly", "id": "GO:0007315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007315", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "compound eye photoreceptor development", "id": "GO:0042051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042051", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of apical plasma membrane", "id": "GO:0098592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098592", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "rhabdomere", "id": "GO:0016028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016028", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "Nebenkern", "id": "GO:0016006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016006", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "Kibra-Ex-Mer complex", "id": "GO:0036375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036375", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "apicomedial cortex", "id": "GO:0106037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106037", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "subapical part of cell", "id": "GO:0120219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120219", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q24564", "url": "https://www.uniprot.org/uniprotkb/Q24564" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q24564-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Thr616", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q24564", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q24564" }, { "database": "PubMed", "id": "17060498", "url": "https://glygen.org/publication/PubMed/17060498" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q24570-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": "https://www.uniprot.org/uniprotkb/Q24570" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 138, "chemical_mass": 15486.0, "gene_names": "grim;BcDNA:RE28551;CG4345;Dmel\\CG4345;GRIM;Grim;grim;gri;grm", "protein_name": "Cell death protein Grim", "disease": [ { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": "https://www.uniprot.org/uniprotkb/Q24570" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q24570", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "DNA recombinase assembly", "id": "GO:0000730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000730", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "DNA strand invasion", "id": "GO:0042148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042148", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008298", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "regulation of double-strand break repair via homologous recombination", "id": "GO:0010569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010569", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070192", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "mitotic recombination-dependent replication fork processing", "id": "GO:1990426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990426", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "double-strand break repair via synthesis-dependent strand annealing", "id": "GO:0045003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045003", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "germarium-derived oocyte fate determination", "id": "GO:0007294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007294", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "polarity specification of dorsal/ventral axis", "id": "GO:0009951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009951", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "oocyte fate determination", "id": "GO:0030716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030716", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "oocyte karyosome formation", "id": "GO:0030717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030717", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" } ], "cellular_component": [ { "name": "condensed nuclear chromosome", "id": "GO:0000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000794", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "ATP-dependent activity, acting on DNA", "id": "GO:0008094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008094", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "DNA strand exchange activity", "id": "GO:0000150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000150", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" }, { "name": "ATP-dependent DNA damage sensor activity", "id": "GO:0140664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140664", "evidence": [ { "database": "UniProtKB", "id": "Q27297", "url": "https://www.uniprot.org/uniprotkb/Q27297" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q27377-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27377", "url": "https://www.uniprot.org/uniprotkb/Q27377" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 155, "chemical_mass": 17780.0, "gene_names": "a10;A10;CG6642;DmelCSP4;Dmel\\CG6642;OS-D/A10;OS-D;Os-D;Phk-1;a10", "protein_name": "Putative odorant-binding protein A10", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q27377", "url": "https://www.uniprot.org/uniprotkb/Q27377" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q27421-4", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27421", "url": "https://www.uniprot.org/uniprotkb/Q27421" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1566, "chemical_mass": 175507.0, "gene_names": "osp;BG:DS01486.5;BG:DS01486.7;BG:DS07721.2;CG3479;Dmel\\CG3479;alw;anon-WO02059370.75;l(2)rJ571;osp;v(2)rJ571", "protein_name": "Protein outspread", "disease": [ { "disease_id": "DOID:0110486", "name": "autosomal recessive nonsyndromic deafness 28", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0110486", "evidence": [ { "id": "0110486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110486" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q27421", "url": "https://www.uniprot.org/uniprotkb/Q27421" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q27421", "url": "https://www.uniprot.org/uniprotkb/Q27421" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q27421-4", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "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": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q27421-4", "start_pos": "418", "end_pos": "418", "site_lbl": "Thr418", "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": 418, "start_aa": "Thr", "end_pos": 418, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr418", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] }, { "uniprot_canonical_ac": "Q27421-4", "start_pos": "636", "end_pos": "636", "site_lbl": "Thr636", "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": 636, "start_aa": "Thr", "end_pos": 636, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr636", "evidence": [ { "id": "GLY_001163", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001163" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q27571-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1349, "chemical_mass": 151715.0, "gene_names": "Nos;CG6713;DNOS1;DNOS;Dmel\\CG6713;NOS1;NOS2;NOS;Nos;dNOS4;dNOS;dNos;drNOSoxy;dsNOS;iNOS;iNos;nNOS;nos", "protein_name": "Nitric oxide synthase", "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: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: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:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "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:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:10112", "name": "sleeping sickness", "description": "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.", "url": "https://disease-ontology.org/term/DOID:10112", "evidence": [ { "id": "10112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10112" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "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: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:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12010", "name": "anterior ischemic optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12010", "evidence": [ { "id": "12010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12010" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:12577", "name": "urethral obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:12577", "evidence": [ { "id": "12577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12577" } ], "weight": 0.0 }, { "disease_id": "DOID:12638", "name": "hypertrophic pyloric stenosis", "description": "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.", "url": "https://disease-ontology.org/term/DOID:12638", "evidence": [ { "id": "12638", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12638" } ], "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:1272", "name": "telangiectasis", "description": "", "url": "https://disease-ontology.org/term/DOID:1272", "evidence": [ { "id": "1272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1272" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:12935", "name": "alcoholic cardiomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12935", "evidence": [ { "id": "12935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13042", "name": "persistent fetal circulation syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13042", "evidence": [ { "id": "13042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13042" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "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: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: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "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:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:654", "name": "overnutrition", "description": "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.", "url": "https://disease-ontology.org/term/DOID:654", "evidence": [ { "id": "654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:654" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:865", "name": "vasculitis", "description": "A vascular disease that is characterized by inflammation of the blood vessels.", "url": "https://disease-ontology.org/term/DOID:865", "evidence": [ { "id": "865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:865" } ], "weight": 0.0 }, { "disease_id": "DOID:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "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:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "weight": 0.0 }, { "disease_id": "DOID:9220", "name": "central sleep apnea", "description": "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.", "url": "https://disease-ontology.org/term/DOID:9220", "evidence": [ { "id": "9220", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9220" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "L-arginine catabolic process", "id": "GO:0006527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006527", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "regulation of organ growth", "id": "GO:0046620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046620", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "response to Gram-negative bacterium", "id": "GO:0140460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140460", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" }, { "name": "imaginal disc development", "id": "GO:0007444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007444", "evidence": [ { "database": "UniProtKB", "id": "Q27571", "url": "https://www.uniprot.org/uniprotkb/Q27571" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q8IMX7-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 652, "chemical_mass": 73776.0, "gene_names": "Miro;B682;CG5410;DMiro;DmMiro;Dmel\\CG5410;Dmel_CG5410;Miro;Q8IMX7-1;Q8IMX7-2;dMiro;dmiro;miro", "protein_name": "Mitochondrial Rho GTPase", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "mitochondrial outer membrane permeabilization", "id": "GO:0097345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097345", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "anterograde axonal transport of mitochondrion", "id": "GO:0098957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098957", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q8IMX7", "url": "https://www.uniprot.org/uniprotkb/Q8IMX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VNM1-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNM1", "url": "https://www.uniprot.org/uniprotkb/Q9VNM1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 485, "chemical_mass": 53537.0, "gene_names": "NPFR;CG1147;DmNPFR1;Dmel\\CG1147;Dmel_CG1147;Drm-NPFR;NPF R;NPF receptor;NPF-R1;NPF-R;NPFR-1;NPFR1;NPFR;NPFr;RE18294p;anon-WO0131005.3;anon-WO0131005.5;dNPFR1;npfr1;npfr", "protein_name": "Neuropeptide F receptor", "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:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, 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"https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "Scc2-Scc4 cohesin loading complex", "id": "GO:0090694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090694", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "polytene chromosome", "id": "GO:0005700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005700", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "establishment of mitotic sister chromatid cohesion", "id": "GO:0034087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034087", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "mitotic sister chromatid cohesion", "id": "GO:0007064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007064", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "maintenance of mitotic sister chromatid cohesion", "id": "GO:0034088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034088", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "establishment of protein localization to chromatin", "id": "GO:0071169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071169", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { 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] }, { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "1991", "end_pos": "1991", "site_lbl": "Ser1991", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7PLI2" } ] } ] }, { "uniprot_canonical_ac": "Q7PLI2-1", "start_pos": "2066", "end_pos": "2066", "site_lbl": "Ser2066", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7PLI2", "url": "https://www.uniprot.org/uniprotkb/Q7PLI2" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q7PLI2", "url": 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"chemical_mass": 69570.0, "gene_names": "Dmel\\CG1090;CG1090;Dmel\\CG1090;Dmel_CG1090", "protein_name": "Probable sodium/potassium/calcium exchanger CG1090", "disease": [ { "disease_id": "DOID:0050633", "name": "ocular albinism 1", "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.", "url": "https://disease-ontology.org/term/DOID:0050633", "evidence": [ { "id": "0050633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050633" } ], "weight": 0.0 }, { "disease_id": "DOID:0080614", "name": "oculocutaneous albinism type VI", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.", "url": "https://disease-ontology.org/term/DOID:0080614", "evidence": [ { "id": "0080614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080614" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "calcium, potassium:sodium antiporter activity", "id": "GO:0008273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008273", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q9VN12", "url": "https://www.uniprot.org/uniprotkb/Q9VN12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VHB4-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 831, "chemical_mass": 95730.0, "gene_names": "Dmel\\CG16789;CG16789;Dmel\\CG16789;Dmel_CG16789", "protein_name": "ATPase AAA-type core domain-containing protein", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9VHB4", "url": "https://www.uniprot.org/uniprotkb/Q9VHB4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VGE8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 289, "chemical_mass": 31678.0, "gene_names": "Tk;CG14734;DTK-1;DTK-2;DTK-3;DTK-4;DTK-5;DTK-6;DTK1;DTK;DTk;DmTK6;Dmel\\CG14734;Dmel_CG14734;Drm-TK-1;Drm-TK-2;Drm-TK-3;Drm-TK-4;Drm-TK-5;Drm-TK-6;Drm-TK;Dtk;TAP-5;TK-1;TK;Tachykinin 1;Tachykinin 2;Tachykinin 4;Tachykinin 5;Tk;Tyk;dTK;dtk", "protein_name": "Tachykinins", "disease": [], "biological_process": [ { "name": "inter-male aggressive behavior", "id": "GO:0002121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002121", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "positive regulation of hindgut contraction", "id": "GO:0060450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060450", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "tachykinin receptor signaling pathway", "id": "GO:0007217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007217", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "positive regulation of sensory perception of pain", "id": "GO:1904058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904058", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9VGE8", "url": "https://www.uniprot.org/uniprotkb/Q9VGE8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q6AWG9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6AWG9", "url": "https://www.uniprot.org/uniprotkb/Q6AWG9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 1238, "chemical_mass": 133869.0, "gene_names": "Dmel\\CG5098;CG5098;Dmel\\CG5098;Dmel_CG5098", "protein_name": "Uncharacterized protein CG5098", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:655", "name": "inherited metabolic disorder", "description": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.", "url": "https://disease-ontology.org/term/DOID:655", "evidence": [ { "id": "655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:655" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VCA2", "url": "https://www.uniprot.org/uniprotkb/Q9VCA2" } ], "pmid": "" } ], 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"database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" }, { "name": "phototransduction", "id": "GO:0007602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007602", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" }, { "name": "intercellular transport", "id": "GO:0010496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010496", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" }, { "name": "dorsal closure", "id": "GO:0007391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007391", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" } ], "molecular_function": [ { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VAS7-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ser366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9VAS7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9VAS7" } ] } ] }, { "uniprot_canonical_ac": "Q9VAS7-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9VAS7", "url": "https://www.uniprot.org/uniprotkb/Q9VAS7" }, { "database": "PubMed", 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"Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 319, "chemical_mass": 35173.0, "gene_names": "dgrn;CG10981;Dgrn;Dmel\\CG10981;Dmel_CG10981;STUbL;dgrn", "protein_name": "", "disease": [ { "disease_id": "DOID:1932", "name": "Angelman syndrome", "description": "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.", "url": "https://disease-ontology.org/term/DOID:1932", "evidence": [ { "id": "1932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1932" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sex determination", "id": "GO:0007530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": 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"https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "SUMO-targeted ubiquitin ligase complex", "id": "GO:0033768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033768", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" }, { "name": "SUMO binding", "id": "GO:0032183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032183", "evidence": [ { "database": "UniProtKB", "id": "Q9VNJ0", "url": "https://www.uniprot.org/uniprotkb/Q9VNJ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q7KVH9-1", "species": [ { "name": "Drosophila 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" }, { "name": "regulation of intracellular signal 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{ "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "Q7KVH9", "url": "https://www.uniprot.org/uniprotkb/Q7KVH9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VNS0-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 459, "chemical_mass": 51601.0, "gene_names": "mael;CG11254;Dmel\\CG11254;Dmel_CG11254;MAEL;Mael;mae1;mael", "protein_name": "Protein maelstrom", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "regulation of miRNA-mediated gene silencing", "id": "GO:0060964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060964", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010586", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "regulatory ncRNA-mediated gene silencing", "id": "GO:0031047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031047", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "piRNA processing", "id": "GO:0034587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034587", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "intracellular mRNA localization", "id": "GO:0008298", "url": 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"id": "GO:0007314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007314", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "regulation of pole plasm oskar mRNA localization", "id": "GO:0007317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007317", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte microtubule cytoskeleton organization", "id": "GO:0016325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016325", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "dorsal appendage formation", "id": "GO:0046843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046843", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte fate commitment", "id": "GO:0048600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048600", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "oocyte nucleus localization involved in oocyte dorsal/ventral axis specification", "id": "GO:0051663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051663", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "transposable element silencing by piRNA-mediated heterochromatin formation", "id": "GO:0141006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141006", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "P granule", "id": "GO:0043186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043186", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9VNS0-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Glu131", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces nuclear aCCumulation in ovary and ovarian somatic cells. Affects transposable element silencing. Causes female sterility.", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" }, { "database": "PubMed", "id": "23159368", "url": "https://glygen.org/publication/PubMed/23159368" } ] } ] }, { "uniprot_canonical_ac": "Q9VNS0-1", "start_pos": "291", "end_pos": "291", "site_lbl": "His291", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Reduces nuclear aCCumulation in ovary and ovarian somatic cells. Affects transposable element silencing. Causes female sterility.", "evidence": [ { "database": "UniProtKB", "id": "Q9VNS0", "url": "https://www.uniprot.org/uniprotkb/Q9VNS0" }, { "database": "PubMed", "id": "23159368", "url": "https://glygen.org/publication/PubMed/23159368" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VN27-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 234, "chemical_mass": 26034.0, "gene_names": "Lipt2;CG9804;Dmel\\CG9804;Dmel_CG9804;Lipt2", "protein_name": "Putative lipoyltransferase 2, mitochondrial", "disease": [ { "disease_id": "DOID:543", "name": "dystonia", "description": "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.", "url": 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"Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipoyl(octanoyl) transferase activity", "id": "GO:0033819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033819", "evidence": [ { "database": "UniProtKB", "id": "Q9VN27", "url": "https://www.uniprot.org/uniprotkb/Q9VN27" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VEJ2-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 852, "chemical_mass": 97552.0, "gene_names": "l(3)07882;CG5824;Dmel\\CG5824;Dmel_CG5824;l(3)07882", "protein_name": "Nucleolar protein 14 homolog", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "Noc4p-Nop14p complex", "id": "GO:0030692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030692", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" }, { "name": "maturation of SSU-rRNA", "id": "GO:0030490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030490", "evidence": [ { "database": "UniProtKB", "id": "Q9VEJ2", "url": "https://www.uniprot.org/uniprotkb/Q9VEJ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q6NN40-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 276, "chemical_mass": 30602.0, "gene_names": "Ntmt;CG1675;Dmel\\CG1675;Dmel_CG1675;Ntmt;dNTMT", "protein_name": "Alpha N-terminal protein methyltransferase 1", "disease": [], "molecular_function": [ { "name": "N-terminal protein N-methyltransferase activity", "id": "GO:0071885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071885", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "biological_process": [ { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q6NN40", "url": "https://www.uniprot.org/uniprotkb/Q6NN40" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9U1H9-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 672, "chemical_mass": 76249.0, "gene_names": "sbr;CG1664;CG17335;CT4634;DNXF-1;Dm nxf1;DmNXF1;Dmel\\CG1664;Dmel_CG1664;NFX1;NXF1-p15;NXF1;Nxf1;PABPr;SBR;Sbr;dNXF1;dNxf1;dTap;l(1)9Fd;l(1)G1;l(1)ts403;l(1)ts;nfx1;nxf1;sbr;sbt", "protein_name": "Nuclear RNA export factor 1", "disease": [], "biological_process": [ { "name": "poly(A)+ mRNA export from nucleus", "id": "GO:0016973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016973", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": "https://www.uniprot.org/uniprotkb/Q9U1H9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9U1H9", "url": 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} ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q9VVX3-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VVX3", "url": "https://www.uniprot.org/uniprotkb/Q9VVX3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 694, "chemical_mass": 75451.0, "gene_names": "fz2;CG9739;D-Fz2;D-fz2;DFZ2;DFz-2;DFz2C;DFz2;Dfrz2;Dfz2;Dfz[[2]];Dm Fz2;Dmel\\CG9739;Dmel_CG9739;FZ2;Frizzled 2;Fz2R;Fz2;dFz2;dfz(2);dfz2r;dfz2;frz2;fz-2;fz2", "protein_name": "Frizzled-2", "disease": [ { "disease_id": "DOID:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", 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"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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8411", "name": "kidney angiomyolipoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8411", "evidence": [ { "id": "8411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8411" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in 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"url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of response to drug", "id": "GO:2001023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001023", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045887", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of proteasomal protein catabolic process", "id": "GO:1901799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901799", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "apical protein localization", "id": "GO:0045176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045176", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "germline cell cycle switching, mitotic to meiotic cell cycle", "id": "GO:0051729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051729", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of axon guidance", "id": "GO:1902669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902669", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "germarium-derived cystoblast division", "id": "GO:0048142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048142", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "terminal branching, open tracheal system", "id": "GO:0007430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007430", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "larval midgut cell programmed cell death", "id": "GO:0035096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035096", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of ribosome biogenesis", "id": "GO:0090070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090070", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "lamellocyte differentiation", "id": "GO:0035171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035171", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of mitotic cell cycle", "id": "GO:0045930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045930", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "regulation of cell size", "id": "GO:0008361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008361", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of multicellular organismal process", "id": "GO:0051240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051240", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of developmental process", "id": "GO:0051094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051094", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "positive regulation of reproductive process", "id": "GO:2000243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000243", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" }, { "name": "negative regulation of macromolecule metabolic process", "id": "GO:0010605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010605", "evidence": [ { "database": "UniProtKB", "id": "Q9VK45", "url": "https://www.uniprot.org/uniprotkb/Q9VK45" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", 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"https://www.alliancegenome.org/disease/DOID:0060368" } ], "weight": 0.0 }, { "disease_id": "DOID:0060369", "name": "Parkinson's disease 6", "description": "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12.", "url": "https://disease-ontology.org/term/DOID:0060369", "evidence": [ { "id": "0060369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060369" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sperm mitochondrion organization", "id": "GO:0030382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030382", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of mitophagy", "id": "GO:1901526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901526", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "oogenesis", "id": "GO:0048477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048477", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of autophagy of mitochondrion", "id": "GO:1903599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903599", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of neuronal action potential", "id": "GO:1904457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904457", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of compound eye pigmentation", "id": "GO:0048078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048078", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "positive regulation of locomotor rhythm", "id": "GO:1904061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904061", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "larval locomotory behavior", "id": "GO:0008345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008345", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "iPTMnet", "id": "Q7KTX7", "url": 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Reduced rescue of mitochondrial defects when expressed in null mutants.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "18957282", "url": "https://glygen.org/publication/PubMed/18957282" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "iPTMnet", "id": "Q7KTX7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7KTX7" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation by Pink1 and reduces enzyme activity. Mitochondrial morphology and function is relatively normal however, expression in TH-neurons results in impaired flying ability, impaired dopamine release and an age-dependent loss of DA neurons, spherical clustering of mitochondria in DA neurons and disturbed mitochondrial transport. Able to rescue all mitochondrial and behavioral defects caused by the loss of Pink1. Partially rescues mitochondrial morphology and abnormal wing posture caused by loss of park. No effect on translocation to mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "27906179", "url": "https://glygen.org/publication/PubMed/27906179" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Phosphomimetic mutant with increased enzyme activity. Lethal when ubiquitously expressed. Constitutive phosphorylation results in impaired motor activity and fragmented mitochondria, likely due to reduced levels of the outer mitochondrial membrane proteins Marf and Miro. Expression in TH-neurons results in impaired flying ability, impaired dopamine release and substantial loss of DA neurons in very young adults (5-day old), single large mitochondria in each DA neuronal cell and loss of mitochondrial transport. Able to rescue reduced adult survival caused by loss of Pink1.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "24901221", "url": "https://glygen.org/publication/PubMed/24901221" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Arg296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Loss of self-ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": "https://www.uniprot.org/uniprotkb/Q7KTX7" }, { "database": "PubMed", "id": "17456438", "url": "https://glygen.org/publication/PubMed/17456438" } ] } ] }, { "uniprot_canonical_ac": "Q7KTX7-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Cys310", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Loss of self-ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q7KTX7", "url": 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], "biological_process": [ { "name": "positive regulation of mitochondrial fusion", "id": "GO:0010636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010636", "evidence": [ { "database": "UniProtKB", "id": "Q7YU24", "url": "https://www.uniprot.org/uniprotkb/Q7YU24" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "Q7YU24", "url": "https://www.uniprot.org/uniprotkb/Q7YU24" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q7YU24", "url": "https://www.uniprot.org/uniprotkb/Q7YU24" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q7YU24", "url": "https://www.uniprot.org/uniprotkb/Q7YU24" 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"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": 480, "start_aa": "Asn", "end_pos": 480, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn480", "evidence": [ { "id": "Q8IRI6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8IRI6#ptm_processing" } ] } ] } ], "record_id": "batch.fruitfly.11" }, { "uniprot_canonical_ac": "Q8IRL8-1", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8IRL8", "url": "https://www.uniprot.org/uniprotkb/Q8IRL8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 341, "chemical_mass": 39131.0, "gene_names": "Gr9a;CG32693;Dmel\\CG32693;GR9a;Gr9a", "protein_name": "Putative gustatory receptor 9a", 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], "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": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "progression of morphogenetic furrow involved in compound eye morphogenesis", "id": "GO:0007458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007458", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "response to ecdysone", "id": "GO:0035075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035075", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "positive regulation of ecdysone receptor signaling pathway", "id": "GO:0120142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120142", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8IRW8", "url": "https://www.uniprot.org/uniprotkb/Q8IRW8" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { 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"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": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"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 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "length": 439, "chemical_mass": 49376.0, "gene_names": "Idgf1;BG:DS02780.5;CG4472;DmIDGF1;Dmel\\CG4472;IDGF-1;IDGF1;IDGF;Idgf1;idgf1;ldgf1", "protein_name": "Chitinase-like protein Idgf1", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": 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"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": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "chitin catabolic process", "id": "GO:0006032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006032", "evidence": [ { "database": "UniProtKB", "id": "Q8MM24", "url": "https://www.uniprot.org/uniprotkb/Q8MM24" } ], "pmid": "" }, { "name": "regulation of stem 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