[ { "uniprot_canonical_ac": "A2A4L9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2A4L9", "url": "https://www.uniprot.org/uniprotkb/A2A4L9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 201, "chemical_mass": 20773.0, "gene_names": "Krtap4-26;Gm11564;Krtap4-26", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A2A4L9", "url": "https://www.uniprot.org/uniprotkb/A2A4L9" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "A2A4L9", "url": "https://www.uniprot.org/uniprotkb/A2A4L9" } ], "pmid": "" } ], "biological_process": [ { "name": "hair cycle", "id": "GO:0042633", "url": 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227945.0, "gene_names": "Scn2a;6430408L10;A230052E19Rik;Nav1.2;Scn2a1;Scn2a", "protein_name": "Sodium channel protein type 2 subunit alpha", "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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seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0080422", "evidence": [ { "id": "0080422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080422" } ], "weight": 0.0 }, { "disease_id": "DOID:0081116", "name": "benign familial infantile seizures 3", "description": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.", "url": "https://disease-ontology.org/term/DOID:0081116", "evidence": [ { "id": "0081116", "database": "AGR", "url": 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"Prr23a1;EG623166;Gm6400;Prr23a1;Prr23a", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "G3X9A2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G3X9A2", "url": "https://www.uniprot.org/uniprotkb/G3X9A2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 248, "chemical_mass": 27488.0, "gene_names": "Krtap24-1;Gm312;Krtap24-1", "protein_name": "Keratin-associated protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "G3X9A2", "url": "https://www.uniprot.org/uniprotkb/G3X9A2" } ], "pmid": "" }, { "name": "keratin filament", "id": "GO:0045095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045095", "evidence": [ { "database": "UniProtKB", "id": "G3X9A2", "url": "https://www.uniprot.org/uniprotkb/G3X9A2" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "G3X9A2", "url": "https://www.uniprot.org/uniprotkb/G3X9A2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3X9A2-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 24, "start_aa": "Thr", "end_pos": 24, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr24", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "G3X9A2-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Ser111", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SCS->NCS).", "chr_id": "16", "chr_pos": "88408793", "evidence": [ { "id": "rs256229232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256229232" } ] } ] }, { "uniprot_canonical_ac": "G3X9A2-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Tyr169", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (YRS->NRS).", "chr_id": "16", "chr_pos": "88408620", "evidence": [ { "id": "rs3389423411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389423411" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "G5E8Z7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "G5E8Z7", "url": "https://www.uniprot.org/uniprotkb/G5E8Z7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 853, "chemical_mass": 97652.0, "gene_names": "Vmn2r75;EG546981;Vmn2r75", "protein_name": "", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "G5E8Z7", "url": "https://www.uniprot.org/uniprotkb/G5E8Z7" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G5E8Z7", "url": "https://www.uniprot.org/uniprotkb/G5E8Z7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], 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"https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", 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"positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell proliferation", "id": "GO:0010625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010625", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "cardiac conduction system development", "id": "GO:0003161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003161", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": 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"Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of membrane permeability", "id": "GO:1905710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905710", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "chemorepulsion involved in interneuron migration from the subpallium to the cortex", "id": "GO:0021842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021842", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "ERBB3 signaling pathway", "id": "GO:0038129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038129", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "ERBB4 signaling pathway", "id": "GO:0038130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038130", "evidence": 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"UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "K7N751-1", "species": [ { "name": "Mus 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characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q1HL35-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 384, "chemical_mass": 42253.0, "gene_names": "Dusp5;Dusp5;Gm337", "protein_name": "Dual specificity protein phosphatase", "disease": [], "biological_process": [ { "name": "dephosphorylation", "id": "GO:0016311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016311", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "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": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "peptidyl-threonine dephosphorylation", "id": "GO:0035970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035970", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "positive regulation of cerebral blood circulation", "id": "GO:0120277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120277", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "MAP kinase tyrosine/serine/threonine phosphatase activity", "id": "GO:0017017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017017", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q3UD61-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 397, "chemical_mass": 44947.0, "gene_names": "Mx1;Mx", "protein_name": "Protein Mx1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. 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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: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:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID: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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q8VGH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VGH6", "url": "https://www.uniprot.org/uniprotkb/Q8VGH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 34749.0, "gene_names": "Or6z5;MOR103-6;Olfr1346;Or6z5", "protein_name": "", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8VGH6", "url": "https://www.uniprot.org/uniprotkb/Q8VGH6" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q8VGH6", "url": "https://www.uniprot.org/uniprotkb/Q8VGH6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", 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"chr_pos": "106984269", "evidence": [ { "id": "rs3388995406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995406" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Gly537", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984248", "evidence": [ { "id": "rs3399804873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399804873" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Cys53", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992393", "evidence": [ { "id": "rs3388958563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958563" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992395", "evidence": [ { "id": "rs3389006146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006146" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Pro543", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984230", "evidence": [ { "id": "rs3399090128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399090128" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ile546", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984221", "evidence": [ { "id": "rs3399566813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399566813" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984220", "evidence": [ { "id": "rs3389012466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012466" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Asn553", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984060", "evidence": [ { "id": "rs3389009917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009917" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Asp559", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984042", "evidence": [ { "id": "rs3389000558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000558" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Gln592", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106982327", "evidence": [ { "id": "rs3389010067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010067" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Glu625", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981986", "evidence": [ { "id": "rs3389000507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000507" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ile630", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981971", "evidence": [ { "id": "rs3388977330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977330" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Arg645", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981926", "evidence": [ { "id": "rs3389006115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006115" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Leu646", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981923", "evidence": [ { "id": "rs3388977311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977311" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981913", "evidence": [ { "id": "rs3389002031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002031" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ala655", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981896", "evidence": [ { "id": "rs3388989552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989552" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ala69", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992346", "evidence": [ { "id": "rs3389012455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012455" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Thr6", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992535", "evidence": [ { "id": "rs3388995427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995427" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992536", "evidence": [ { "id": "rs3388958607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958607" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Pro76", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992326", "evidence": [ { "id": "rs3389006898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006898" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Tyr95", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992267", "evidence": [ { "id": "rs13475134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13475134" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Arg33", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid and phosphatidylserine. Abolishes binding with phosphatidic acid and phosphatidylserine; when associated with 45-DEL-48. Strongly decreases sphingomyelin phosphodiesterase activity; when associated with 45-DEL-48. Abolishes sphingomyelin phosphodiesterase activity and locates at endoplasmic reticulum; when associated with 45-DEL-48 and 92-A-A-93.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Arg92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Arg99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "O54943-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprotkb/O54943" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1257, "chemical_mass": 135881.0, "gene_names": "Per2;Per2;mKIAA0347;mPer2", "protein_name": "Period circadian protein homolog 2", "disease": [ { "disease_id": "DOID:0050628", "name": "advanced sleep phase syndrome", "description": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.", "url": "https://disease-ontology.org/term/DOID:0050628", "evidence": [ { "id": "0050628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050628" } ], "weight": 0.0 }, { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": 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"https://www.uniprot.org/uniprotkb/O54943" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprotkb/O54943" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprotkb/O54943" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprotkb/O54943" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": 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"name": "familial erythrocytosis 1", "description": "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.", "url": "https://disease-ontology.org/term/DOID:0060652", "evidence": [ { "id": "0060652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060652" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { 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The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of NK T cell proliferation", "id": "GO:0051142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051142", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of growth hormone receptor signaling pathway", "id": "GO:0060400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060400", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of growth hormone receptor signaling pathway", "id": "GO:0060399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060399", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-5-mediated signaling pathway", "id": "GO:0038043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038043", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-3-mediated signaling pathway", "id": "GO:0038156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038156", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "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": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "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": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell activation", "id": "GO:0050867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050867", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-12-mediated signaling pathway", "id": "GO:0035722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035722", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to hydroperoxide", "id": "GO:0033194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033194", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "erythropoietin-mediated signaling pathway", "id": "GO:0038162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038162", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "symbiont-induced defense-related programmed cell death", "id": "GO:0034050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034050", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to granulocyte macrophage colony-stimulating factor", "id": "GO:0097012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097012", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of platelet aggregation", "id": "GO:1901731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901731", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "thrombopoietin-mediated signaling pathway", "id": "GO:0038163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038163", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "nuclear receptor-mediated mineralocorticoid signaling pathway", "id": "GO:0031959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031959", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to interleukin-12", "id": "GO:0070671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070671", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of growth factor dependent skeletal muscle satellite cell proliferation", "id": "GO:1902728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902728", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell apoptotic process", "id": "GO:1904037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904037", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell proliferation", "id": "GO:0032819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032819", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cellular response to interleukin-3", "id": "GO:0036016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036016", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "collagen-activated signaling pathway", "id": "GO:0038065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038065", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "post-embryonic hemopoiesis", "id": "GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "activation of Janus kinase activity", "id": "GO:0042976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042976", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-23-mediated signaling pathway", "id": "GO:0038155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038155", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 type immune response", "id": "GO:2000318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000318", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of protein localization to chromatin", "id": "GO:0120186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120186", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of leukocyte proliferation", "id": "GO:0070665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070665", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of postsynapse to nucleus signaling pathway", "id": "GO:1905539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905539", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905869", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "granulocyte-macrophage colony-stimulating factor signaling pathway", "id": "GO:0038157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038157", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "defense response to symbiont", "id": "GO:0140546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140546", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of cell activation", "id": "GO:0050865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050865", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "granulocyte macrophage colony-stimulating factor receptor complex", "id": "GO:0030526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030526", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "extrinsic component of plasma membrane", "id": "GO:0019897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019897", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-12 receptor complex", "id": "GO:0042022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042022", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-23 receptor complex", "id": "GO:0072536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072536", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" } ], "molecular_function": [ { "name": "interleukin-12 receptor binding", "id": "GO:0005143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005143", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase 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"mesenchymal-epithelial cell signaling", "id": "GO:0060638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060638", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "fungiform papilla morphogenesis", "id": "GO:0061197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061197", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "polarity specification of anterior/posterior axis", "id": "GO:0009949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009949", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle cell proliferation", "id": "GO:0014858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014858", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "trachea morphogenesis", "id": "GO:0060439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060439", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "right lung development", "id": "GO:0060458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060458", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "left lung development", "id": "GO:0060459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060459", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "primary prostatic bud elongation", "id": "GO:0060516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060516", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of prostatic bud formation", "id": "GO:0060685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060685", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of mesenchymal cell proliferation involved in prostate gland development", "id": "GO:0060782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060782", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal smoothened signaling pathway involved in prostate gland development", "id": "GO:0060783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060783", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of sclerotome development", "id": "GO:0061189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061189", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tracheoesophageal septum formation", "id": "GO:1905327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905327", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of ureter smooth muscle cell differentiation", "id": "GO:2000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000062", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of ureter smooth muscle cell differentiation", "id": "GO:2000063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000063", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of kidney smooth muscle cell differentiation", "id": "GO:2000357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000357", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of kidney smooth muscle cell differentiation", "id": "GO:2000358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000358", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation involved in ureter development", "id": "GO:2000729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000729", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of photoreceptor cell differentiation", "id": "GO:0046534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046534", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "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": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of proteolysis", "id": "GO:0030162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030162", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "animal organ formation", "id": "GO:0048645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048645", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "male genitalia morphogenesis", "id": "GO:0048808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048808", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060769", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cerebellar granule cell precursor proliferation", "id": "GO:0021930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021930", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "respiratory tube development", "id": "GO:0030323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030323", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "formation of anatomical boundary", "id": "GO:0048859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048859", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "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": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "salivary gland cavitation", "id": "GO:0060662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060662", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "alpha-tubulin acetylation", "id": "GO:0071929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071929", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephric mesenchymal cell proliferation involved in metanephros development", "id": "GO:0072136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072136", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation in thymus", "id": "GO:0033085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033085", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in prostate gland morphogenesis", "id": "GO:0060442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060442", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial-mesenchymal cell signaling", "id": "GO:0060684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060684", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "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": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cerebellar granule cell precursor proliferation", "id": "GO:0021940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021940", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tongue morphogenesis", "id": "GO:0043587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043587", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070447", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation involved in lung development", "id": "GO:0060916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060916", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "fungiform papilla formation", "id": "GO:0061198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061198", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron specification", "id": "GO:0021521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021521", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "forebrain regionalization", "id": "GO:0021871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021871", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of odontogenesis", "id": "GO:0042481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042481", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "stem cell development", "id": "GO:0048864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048864", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation", "id": "GO:0010463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010463", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "bud outgrowth involved in lung branching", "id": "GO:0060447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060447", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung lobe morphogenesis", "id": "GO:0060463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060463", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in salivary gland morphogenesis", "id": "GO:0060664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060664", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of protein localization to nucleus", "id": "GO:1900180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900180", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of striated muscle cell differentiation", "id": "GO:0051155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051155", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060768", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell proliferation in external granule layer", "id": "GO:0021924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021924", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of neurotrophin production", "id": "GO:0032901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032901", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": 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}, { "uniprot_canonical_ac": "Q6R0H7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1133, "chemical_mass": 121505.0, "gene_names": "Gnas;5530400H20Rik;A930027G11Rik;C130027O20Rik;GPSA;GSP;Galphas;Gnas1;Gnasxl;Gnas;Gs-alpha;Gsa;MNCb-5546;Nesp55;Nespl;Nesp;Oed-Sml;Oedsml;P1;P2;P3;PHP1A;PHP1B;POH;SCG6", "protein_name": "Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas", "disease": [ { "disease_id": "DOID:0051013", "name": "pseudohypoparathyroidism type 1C", "description": "A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0051013", "evidence": [ { "id": "0051013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051013" } ], "weight": 0.0 }, { "disease_id": "DOID:0080053", "name": "pseudohypoparathyroidism type 1A", "description": "A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.", "url": "https://disease-ontology.org/term/DOID:0080053", "evidence": [ { "id": "0080053", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080053" } ], "weight": 0.0 }, { "disease_id": "DOID:0080222", "name": "pseudohypoparathyroidism type 1B", "description": "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.", "url": "https://disease-ontology.org/term/DOID:0080222", "evidence": [ { "id": "0080222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080222" } ], "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:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": "DOID:0111623", "name": "ACTH-independent macronodular adrenal hyperplasia 1", "description": "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111623", "evidence": [ { "id": "0111623", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111623" } ], "weight": 0.0 }, { "disease_id": "DOID:0112010", "name": "pituitary adenoma 3", "description": "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0112010", "evidence": [ { "id": "0112010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112010" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery 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: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:1858", "name": "McCune Albright syndrome", "description": "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and caf-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.", "url": "https://disease-ontology.org/term/DOID:1858", "evidence": [ { "id": "1858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1858" } ], "weight": 0.0 }, { "disease_id": "DOID:4183", "name": "pseudopseudohypoparathyroidism", "description": "A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.", "url": "https://disease-ontology.org/term/DOID:4183", "evidence": [ { "id": "4183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4183" } ], "weight": 0.0 }, { "disease_id": "DOID:4184", "name": "pseudohypoparathyroidism", "description": "A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albrights hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face.", "url": "https://disease-ontology.org/term/DOID:4184", "evidence": [ { "id": "4184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4184" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in 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: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: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": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "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": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "adenylate cyclase activator activity", "id": "GO:0010856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010856", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "alkylglycerophosphoethanolamine phosphodiesterase activity", "id": "GO:0047391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047391", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "beta-2 adrenergic receptor binding", "id": "GO:0031698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031698", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "G-protein beta-subunit binding", "id": "GO:0031681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031681", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor binding", "id": "GO:0005159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005159", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "D1 dopamine receptor binding", "id": "GO:0031748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031748", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 1 binding", "id": "GO:0051430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051430", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "mu-type opioid receptor binding", "id": "GO:0031852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031852", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "adenylate cyclase regulator activity", "id": "GO:0010854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010854", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": 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"uniprot_canonical_ac": "O35082-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Leu59", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150876356", "evidence": [ { "id": "rs3543987760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543987760" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Asp600", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912052", "evidence": [ { "id": "rs3388814292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814292" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "615", "end_pos": "615", "site_lbl": "His615", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912095", "evidence": [ { "id": "rs3544003257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544003257" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Thr664", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912243", "evidence": [ { "id": "rs3388813989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388813989" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Asp670", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912261", "evidence": [ { "id": "rs3388798575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388798575" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Lys677", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912281", "evidence": [ { "id": "rs3388798556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388798556" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Pro692", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912327", "evidence": [ { "id": "rs3388807915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807915" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Arg707", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912371", "evidence": [ { "id": "rs3388806772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806772" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "709", "end_pos": "709", "site_lbl": "His709", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912377", "evidence": [ { "id": "rs3388781714", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "O35082-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Phe743", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912480", "evidence": [ { "id": "rs3388781696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781696" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Ser744", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912483", "evidence": [ { "id": "rs3395675550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395675550" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Lys783", 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"UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte apoptotic process", "id": "GO:1902174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902174", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "regulation of establishment of T cell polarity", "id": "GO:1903903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903903", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "regulation of plasma membrane raft polarization", "id": "GO:1903906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903906", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "regulation of receptor clustering", "id": "GO:1903909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903909", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of protein processing in phagocytic vesicle", "id": "GO:1903923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903923", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cardiac muscle cell contraction", "id": "GO:0086003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086003", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin polymerization or depolymerization", "id": "GO:0008154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008154", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of actin nucleation", "id": "GO:0051127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051127", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament capping", "id": "GO:0051693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051693", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" } ], "molecular_function": [ { "name": "myosin II binding", "id": "GO:0045159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045159", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase catalytic subunit binding", "id": "GO:0036313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036313", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "actin cap", "id": "GO:0030478", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030478", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "apical ectoplasmic specialization", "id": "GO:0061831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061831", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "basal ectoplasmic specialization", "id": "GO:0061832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061832", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "glial filament", "id": "GO:0097426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097426", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13020-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 48, "start_aa": "Ser", "end_pos": 48, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser48", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P13020", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13020" } ] } ] }, { "uniprot_canonical_ac": "P13020-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Tyr407", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P13020", "url": "https://www.uniprot.org/uniprotkb/P13020" } ] } ] }, { "uniprot_canonical_ac": "P13020-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Tyr463", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", 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heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 } ], "biological_process": [ { "name": "right ventricular compact myocardium morphogenesis", "id": "GO:0003226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003226", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "cranial nerve development", "id": "GO:0021545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021545", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "olfactory nerve development", "id": "GO:0021553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021553", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "female genitalia development", "id": "GO:0030540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030540", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "olfactory behavior", "id": "GO:0042048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042048", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "nose development", "id": "GO:0043584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043584", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "semicircular canal morphogenesis", "id": "GO:0048752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048752", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "regulation of growth hormone secretion", "id": "GO:0060123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060123", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "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": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0010880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010880", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "ear morphogenesis", "id": "GO:0042471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042471", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "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": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" }, { "name": "ATP-dependent chromatin remodeler activity", "id": "GO:0140658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140658", "evidence": [ { "database": "UniProtKB", "id": "A2AJK6", "url": "https://www.uniprot.org/uniprotkb/A2AJK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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"Q9Z261", "url": "https://www.uniprot.org/uniprotkb/Q9Z261" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q9Z261", "url": "https://www.uniprot.org/uniprotkb/Q9Z261" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q9Z261", "url": "https://www.uniprot.org/uniprotkb/Q9Z261" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "P05017-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 153, "chemical_mass": 17093.0, "gene_names": "Igf1;C730016P09Rik;Igf-1;Igf-I;Igf1", "protein_name": "Insulin-like growth factor 1", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080038", "name": "pycnodysostosis", "description": "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.", "url": "https://disease-ontology.org/term/DOID:0080038", "evidence": [ { "id": "0080038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080038" } ], "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:0080539", "name": "PEHO syndrome", "description": "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.", "url": "https://disease-ontology.org/term/DOID:0080539", "evidence": [ { "id": "0080539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080539" } ], "weight": 0.0 }, { "disease_id": "DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.", "url": "https://disease-ontology.org/term/DOID:0080552", "evidence": [ { "id": "0080552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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: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: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: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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "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:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:14026", "name": "folic acid deficiency anemia", "description": "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.", "url": "https://disease-ontology.org/term/DOID:14026", "evidence": [ { "id": "14026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14026" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "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: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: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: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: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: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: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: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: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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "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: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: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:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9521", "name": "Laron syndrome", "description": "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.", "url": "https://disease-ontology.org/term/DOID:9521", "evidence": [ { "id": "9521", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9521" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "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": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "muscle hypertrophy", "id": "GO:0014896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014896", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "myotube cell development", "id": "GO:0014904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014904", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of oocyte development", "id": "GO:0060283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060283", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of trophectodermal cell proliferation", "id": "GO:1904075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904075", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate gland stromal morphogenesis", "id": "GO:0060741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060741", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte apoptotic process", "id": "GO:1900142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900142", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of establishment or maintenance of cell polarity", "id": "GO:0032878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032878", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "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": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "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": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "activation of protein kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "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": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell apoptotic process", "id": "GO:0034392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034392", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "bone mineralization involved in bone maturation", "id": "GO:0035630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035630", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "type II pneumocyte differentiation", "id": "GO:0060510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060510", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate gland growth", "id": "GO:0060736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060736", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": 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"P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", 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0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "O88809", "url": "https://www.uniprot.org/uniprotkb/O88809" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "O88809", "url": "https://www.uniprot.org/uniprotkb/O88809" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007269", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060029", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "protein localization to microtubule", "id": "GO:0035372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035372", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "skeletal muscle acetylcholine-gated channel clustering", "id": "GO:0071340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071340", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": 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"id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing 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"GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "somite specification", "id": "GO:0001757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001757", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030947", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900746", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "marginal zone B cell differentiation", "id": "GO:0002315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002315", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell differentiation", "id": "GO:2000726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000726", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell differentiation", "id": "GO:0030857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030857", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "auditory receptor cell fate commitment", "id": "GO:0009912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009912", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "Notch binding", "id": 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Not phosphorylated and prevents phosphorylation at S-696. Reduces NOTCH1 transactivation; when associated with V-638 and A-696. Reduces cell surface levels of proteins; when associated with V-638 and A-696. 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Not phosphorylated and doesn't prevent phosphorylation at T-638 and S-693, Reduces NOTCH1 transactivation; when associated with V-638 and A-693. Reduces cell surface levels of proteins; when associated with V-638 and A-693. Increases ectodomain shedding; when associated with V-638 and A-693.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Lys613", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Highly decreases Notch signaling pathway. Multi-ubiquitination pattern is reduced, although it does appear to be mono-ubiquitinated. Interacts with MIB1. Loss of cis and trans interaction with NOTCH1. Increases its association with lipid raft microdomains.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Lys689", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases Notch signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Lys699", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases Notch signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "713", "end_pos": "713", "site_lbl": "Lys713", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases Notch signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q6WQJ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6WQJ1", "url": "https://www.uniprot.org/uniprotkb/Q6WQJ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1044, "chemical_mass": 115375.0, "gene_names": 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cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "internal protein amino acid acetylation", "id": "GO:0006475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006475", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": 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"https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein acetylation", "id": "GO:1901985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901985", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of chromosome condensation", "id": "GO:1902340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902340", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cellular response to hypoxia", "id": "GO:1900039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900039", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of miRNA metabolic process", "id": "GO:2000629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000629", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "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": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "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": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of angiotensin metabolic process", "id": "GO:0060177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060177", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "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": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "internal peptidyl-lysine acetylation", "id": "GO:0018393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018393", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "N-terminal peptidyl-lysine acetylation", "id": "GO:0018076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018076", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peptidyl-lysine acetylation", "id": "GO:0018394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018394", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to L-leucine", "id": "GO:0071233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071233", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of sarcomere organization", "id": "GO:0060298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060298", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of glycoprotein biosynthetic process", "id": "GO:0010560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010560", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-DNA complex assembly", "id": "GO:0065004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065004", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell lineage commitment", "id": "GO:2000330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000330", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of muscle atrophy", "id": "GO:0014737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014737", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of protein oligomerization", "id": "GO:0032460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032460", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "thigmotaxis", "id": "GO:0001966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001966", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "behavioral defense response", "id": "GO:0002209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002209", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein propionyltransferase activity", "id": "GO:0061920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061920", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peptide butyryltransferase activity", "id": "GO:0140065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140065", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "histone crotonyltransferase activity", "id": "GO:0140068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140068", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "histone butyryltransferase activity", "id": "GO:0140069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140069", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein antigen binding", "id": "GO:1990405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990405", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "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": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor binding", "id": "GO:0042975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription coactivator binding", 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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:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], 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"https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "weight": 0.0 }, { "disease_id": "DOID:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "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: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: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.", "url": 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located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:369", "name": "olfactory neuroblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:369", "evidence": [ { "id": "369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:369" } ], "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: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: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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intestinal epithelial cell maturation", "id": "GO:0060574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060574", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell apoptotic process", "id": "GO:2001054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001054", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular wound healing", "id": "GO:0035470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035470", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "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": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "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": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "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": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "B-1 B cell homeostasis", "id": "GO:0001922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001922", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "vascular endothelial growth factor production", "id": "GO:0010573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010573", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of hormone biosynthetic process", "id": "GO:0046886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046886", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "hemoglobin biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of chemokine-mediated signaling pathway", "id": "GO:0070101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070101", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of growth", "id": "GO:0045926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045926", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "neural fold elevation formation", "id": "GO:0021502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021502", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to fungicide", "id": "GO:0060992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060992", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "hypoxia-inducible factor-1alpha signaling pathway", "id": "GO:0097411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097411", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "iron import into the mitochondrion", "id": "GO:0048250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048250", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in mammary gland alveolus development", "id": "GO:0061030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061030", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "iris morphogenesis", "id": "GO:0061072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061072", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of thymocyte apoptotic process", "id": "GO:0070243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070243", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "lactate metabolic process", "id": "GO:0006089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006089", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "connective tissue replacement involved in inflammatory response wound healing", "id": "GO:0002248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002248", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta2 production", "id": "GO:0032909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032909", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "elastin metabolic process", "id": "GO:0051541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051541", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of stress granule assembly", "id": "GO:0062029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062029", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of protein neddylation", "id": "GO:2000434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000434", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial cell maturation", "id": "GO:0002070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002070", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "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": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "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": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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"DNA-binding transcription activator activity", "id": "GO:0001216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001216", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity", "id": "GO:0001217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001217", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "transcription regulator activator activity", "id": "GO:0140537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140537", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": 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"graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.", "url": "https://disease-ontology.org/term/DOID:1229", "evidence": [ { "id": "1229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ], "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: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "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: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: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: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: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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9651", "name": "systolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9651", "evidence": [ { "id": "9651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9651" } ], "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 } ], "biological_process": [ { "name": "negative regulation of inclusion body assembly", "id": "GO:0090084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090084", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "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": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901029", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "cellular heat acclimation", "id": "GO:0070370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070370", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070434", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" } ], "molecular_function": [ { "name": "denatured protein binding", "id": "GO:0031249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031249", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "C3HC4-type RING finger domain binding", "id": "GO:0055131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055131", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": 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functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "ubiquitin recycling", "id": "GO:0010992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010992", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "insulin metabolic process", "id": "GO:1901142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901142", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "hormone catabolic process", "id": "GO:0042447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042447", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "bradykinin catabolic process", "id": "GO:0010815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010815", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "insulin catabolic process", "id": "GO:1901143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901143", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "insulin receptor recycling", "id": "GO:0038020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038020", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic proteasome complex", "id": "GO:0031597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031597", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-endorphin binding", "id": "GO:0031626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031626", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "Q9JHR7", "url": "https://www.uniprot.org/uniprotkb/Q9JHR7" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": 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"phosphatidylinositol-4,5-bisphosphate phosphatase activity", "id": "GO:0106019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106019", "evidence": [ { "database": "UniProtKB", "id": "Q9JII1", "url": "https://www.uniprot.org/uniprotkb/Q9JII1" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9JII1", "url": "https://www.uniprot.org/uniprotkb/Q9JII1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JII1", "url": "https://www.uniprot.org/uniprotkb/Q9JII1" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JII1", "url": "https://www.uniprot.org/uniprotkb/Q9JII1" } ], "pmid": "" }, { "name": "plasma 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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: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:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "weight": 0.0 }, { "disease_id": "DOID:5733", "name": "salpingitis", "description": "A fallopian tube disease that is characterized by inflammation of the fallopian tube.", "url": "https://disease-ontology.org/term/DOID:5733", "evidence": [ { "id": "5733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5733" } ], "weight": 0.0 }, { "disease_id": "DOID:693", "name": "dental enamel hypoplasia", "description": "", "url": "https://disease-ontology.org/term/DOID:693", "evidence": [ { "id": "693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:693" } ], "weight": 0.0 }, { "disease_id": "DOID:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "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: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:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "intracellularly ATP-gated chloride channel activity", "id": "GO:0005260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005260", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel inhibitor activity", "id": "GO:0019869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019869", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "Sec61 translocon complex binding", "id": "GO:0106138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106138", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "positive regulation of enamel mineralization", "id": "GO:0070175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070175", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "transepithelial water transport", "id": "GO:0035377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035377", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "transepithelial chloride transport", "id": "GO:0030321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030321", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "positive regulation of mast cell activation", "id": "GO:0033005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033005", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "negative regulation of type B pancreatic cell development", "id": "GO:2000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000077", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "intracellular pH elevation", 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canal development", "id": "GO:0060873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060873", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "lateral semicircular canal development", "id": "GO:0060875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060875", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "cell differentiation involved in kidney development", "id": "GO:0061005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061005", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "spinal cord dorsal/ventral patterning", "id": "GO:0021513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021513", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "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": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "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": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "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": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "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": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "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": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "optic nerve morphogenesis", "id": "GO:0021631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021631", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "cerebral cortex radial glia-guided migration", "id": "GO:0021801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021801", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "pallium development", "id": "GO:0021543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021543", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], 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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:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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: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:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "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: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:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mammary gland duct morphogenesis", "id": "GO:0060603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "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": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "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": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "positive regulation of glutamate secretion", "id": "GO:0014049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014049", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:0042921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042921", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "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": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic depression", "id": "GO:1900453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900453", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": 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"Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "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": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { 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"id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "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": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "spinal cord ventral commissure morphogenesis", "id": "GO:0021965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021965", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "prostatic bud formation", "id": "GO:0060513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060513", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "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": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "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": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": 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"" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": 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"id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "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": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" } ], "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": "P28033", "url": 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Decreases ubiquitination and increases stability. Loss of proliferation inhibition in T cells. No effect on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "16585579", "url": "https://glygen.org/publication/PubMed/16585579" }, { "database": "PubMed", "id": "24061474", "url": "https://glygen.org/publication/PubMed/24061474" }, { "database": "PubMed", "id": "20194620", "url": "https://glygen.org/publication/PubMed/20194620" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Glu135", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Not sumoylated and not ubiquitinated.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "20194620", "url": "https://glygen.org/publication/PubMed/20194620" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Lys215", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Lys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Dominant negative. Loss of transactivation activity. No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Lys98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on transactivation activity. Not acetylated after glucocorticoid-stimulation and no increase of transactivation activity; when associated with R-101 and R-102.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "17301242", "url": "https://glygen.org/publication/PubMed/17301242" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "P53568-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 150, "chemical_mass": 16400.0, "gene_names": "Cebpg;C/EBP[g];C/EBPgamma;Cebpg;GPE1-BP;Gpe1bp;Ig/EBP", "protein_name": "CCAAT/enhancer-binding protein gamma", "disease": [], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "enucleate erythrocyte differentiation", "id": "GO:0043353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043353", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "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": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "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": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding, bending", "id": "GO:0044377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044377", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "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": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "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": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q5SS90-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SS90", "url": "https://www.uniprot.org/uniprotkb/Q5SS90" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 291, "chemical_mass": 32895.0, "gene_names": "Gm11992;Gm11992", "protein_name": "Uncharacterized protein C7orf57 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SS90-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Thr286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": 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"uniprot_canonical_ac": "Q6IRU5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 229, "chemical_mass": 25172.0, "gene_names": "Cltb;2310046E19Rik;Cltb;lcb", "protein_name": "Clathrin light chain B", "disease": [], "cellular_component": [ { "name": "clathrin coat", "id": "GO:0030118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030118", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "clathrin vesicle coat", "id": "GO:0030125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030125", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "presynaptic endocytic zone membrane", "id": "GO:0098835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098835", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" }, { "name": "clathrin heavy chain binding", "id": "GO:0032050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032050", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": "https://www.uniprot.org/uniprotkb/Q6IRU5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6IRU5-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6IRU5", "url": 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"https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "sperm annulus", "id": "GO:0097227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097227", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "RISC complex", "id": "GO:0016442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016442", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "chromatoid body", "id": "GO:0033391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033391", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "concave side of sperm head", "id": "GO:0061830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061830", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" } ], "biological_process": [ { "name": "viral RNA genome packaging", "id": "GO:0019074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019074", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by inhibition of translation", "id": "GO:0035278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035278", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "spermatid differentiation", "id": "GO:0048515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048515", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P54823-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Thr36", "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": 36, "start_aa": "Thr", "end_pos": 36, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr36", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P54823", "url": "https://www.uniprot.org/uniprotkb/P54823" } ] } ] } ], "record_id": "batch.mouse.2" }, { "uniprot_canonical_ac": "Q570Y9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 409, "chemical_mass": 46120.0, "gene_names": "Deptor;Depdc6;Deptor;Kiaa4200", "protein_name": "DEP domain-containing mTOR-interacting protein", "disease": [], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001236", "url": 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"id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q570Y9", "url": "https://www.uniprot.org/uniprotkb/Q570Y9" } ], "pmid": "" }, { "name": "lysosomal membrane", 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"https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1742", "name": "drug psychosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1742", "evidence": [ { "id": "1742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1742" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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:251", "name": "alcohol-induced mental disorder", "description": "", "url": "https://disease-ontology.org/term/DOID:251", "evidence": [ { "id": "251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:251" } ], "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: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 }, { "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: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:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.", "url": "https://disease-ontology.org/term/DOID:480", "evidence": [ { "id": "480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:480" } ], "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:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. 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"name": "auditory behavior", "id": "GO:0031223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031223", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "adenohypophysis development", "id": "GO:0021984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021984", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "response to histamine", "id": "GO:0034776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034776", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, sleep", "id": "GO:0042321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042321", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "acid secretion", "id": "GO:0046717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046717", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "branching morphogenesis of a nerve", "id": "GO:0048755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048755", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "regulation of dopamine uptake involved in synaptic transmission", "id": "GO:0051584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051584", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "positive regulation of dopamine uptake involved in synaptic transmission", "id": "GO:0051586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051586", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "phospholipase C-activating dopamine receptor signaling pathway", "id": "GO:0060158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060158", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "negative regulation of dopamine receptor signaling pathway", "id": "GO:0060160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060160", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "regulation of locomotion involved in locomotory behavior", "id": "GO:0090325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090325", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "hyaloid vascular plexus regression", "id": "GO:1990384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990384", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "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": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "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": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P61168", "url": "https://www.uniprot.org/uniprotkb/P61168" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { 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}, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" 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"https://www.ebi.ac.uk/QuickGO/term/GO:2000646", "evidence": [ { "database": "UniProtKB", "id": "Q68FF6", "url": "https://www.uniprot.org/uniprotkb/Q68FF6" } ], "pmid": "" }, { "name": "negative regulation of ARF protein signal transduction", "id": "GO:0032013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032013", "evidence": [ { "database": "UniProtKB", "id": "Q68FF6", "url": "https://www.uniprot.org/uniprotkb/Q68FF6" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q68FF6", "url": "https://www.uniprot.org/uniprotkb/Q68FF6" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "Q68FF6", "url": "https://www.uniprot.org/uniprotkb/Q68FF6" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": 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"https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9D6F9", "url": "https://www.uniprot.org/uniprotkb/Q9D6F9" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": 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{ "uniprot_canonical_ac": "P25119-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 474, "chemical_mass": 50320.0, "gene_names": "Tnfrsf1b;CD120b;TNF-R-II;TNF-R2;TNF-R75;TNF-alphaR2;TNFBR;TNFR80;TNFRII;TNFalpha-R2;Tnfr-1;Tnfr-2;Tnfr2;Tnfrsf1b;p75", "protein_name": "Tumor necrosis factor receptor superfamily member 1B", "disease": [ { "disease_id": "DOID:0050157", "name": "cryptogenic organizing pneumonia", "description": "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). 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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: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: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: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: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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": 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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: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: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: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: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: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:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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 } ], "biological_process": [ { "name": "RNA destabilization", "id": "GO:0050779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050779", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in immune response", "id": "GO:0002718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002718", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "P25119", "url": "https://www.uniprot.org/uniprotkb/P25119" } ], "pmid": "" }, { "name": "positive regulation of membrane 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"https://www.uniprot.org/uniprotkb/P04213" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P04213", "url": "https://www.uniprot.org/uniprotkb/P04213" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P04213", "url": "https://www.uniprot.org/uniprotkb/P04213" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.20" }, { "uniprot_canonical_ac": "P09225-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 202, "chemical_mass": 21999.0, "gene_names": "Lta;LT-[a];LT-alpha;LT[a];LTalpha;LT;Lta;Ltx;TNF-beta;TNFSF1;Tnfb;Tnfsf1b;Tnfsf1;Tnlg1e;hlb382", "protein_name": "Lymphotoxin-alpha", "disease": [ { "disease_id": "DOID:0050127", "name": "sinusitis", "description": "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050697", "name": "chorioamnionitis", "description": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:0050697", "evidence": [ { "id": "0050697", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050697" } ], "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:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. 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: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: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: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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:4398", "name": "pustulosis of palm and sole", "description": "", "url": "https://disease-ontology.org/term/DOID:4398", "evidence": [ { "id": "4398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4398" } ], "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:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", "evidence": [ { "id": "8505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8505" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9155", "name": "mucocutaneous leishmaniasis", "description": "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.", "url": "https://disease-ontology.org/term/DOID:9155", "evidence": [ { "id": "9155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9155" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "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": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of humoral immune response mediated by circulating immunoglobulin", "id": "GO:0002925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002925", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "positive regulation of chronic inflammatory response to antigenic stimulus", "id": "GO:0002876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002876", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09225", "url": "https://www.uniprot.org/uniprotkb/P09225" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", 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"start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "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": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "P09225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P09225#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.20" }, { "uniprot_canonical_ac": "P15306-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15306", "url": "https://www.uniprot.org/uniprotkb/P15306" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 577, "chemical_mass": 61868.0, "gene_names": 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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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3410", "name": "carotid artery thrombosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3410", "evidence": [ { "id": "3410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ], "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: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: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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ], "pmid": "" }, { "name": "cellular response to muramyl dipeptide", "id": "GO:0071225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071225", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling 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"end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr214", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5NCC3-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Ser447", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ] } ] }, { "uniprot_canonical_ac": "Q5NCC3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Thr85", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5NCC3", "url": "https://www.uniprot.org/uniprotkb/Q5NCC3" } ] } ] } ], "record_id": "batch.mouse.20" }, { "uniprot_canonical_ac": "Q61187-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61187", "url": 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(complex) asparagine;Complex", "icn3d_view": {}, "start_pos": 934, "start_aa": "Asn", "end_pos": 934, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn934", "evidence": [ { "id": "Q8R4D5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5#ptm_processing" }, { "id": "19176480", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19176480" }, { "id": "17015441", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17015441" }, { "id": "GLY_000492", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000492" } ], "mining_tool": "GlycoSiteMiner_1.0", "mining_tool_list": [ { "label": "GlycoSiteMiner_1.0" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Slightly reduced ion channel sensitivity to cold stimuli. No significant effect on ion channel sensitivity to menthol plus cold stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" }, { "database": "PubMed", "id": "19176480", "url": "https://glygen.org/publication/PubMed/19176480" }, { "database": "PubMed", "id": "22493431", "url": "https://glygen.org/publication/PubMed/22493431" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Reduced ion channel sensitivity to cold stimuli or menthol plus cold stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" }, { "database": "PubMed", "id": "19176480", "url": "https://glygen.org/publication/PubMed/19176480" }, { "database": "PubMed", "id": "22493431", "url": "https://glygen.org/publication/PubMed/22493431" } ] }, { "sequence_org": "N", "sequence_mut": "Q", "comment": "Abolishes glycosylation. 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No effect on cell surface expression. Reduced glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "Q8R4D5", "url": "https://www.uniprot.org/uniprotkb/Q8R4D5" }, { "database": "PubMed", "id": "17015441", "url": "https://glygen.org/publication/PubMed/17015441" } ] } ] }, { "uniprot_canonical_ac": "Q8R4D5-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Cys940", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes ion channel activity. No effect on cell surface expression. 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q9JKA3", "url": "https://www.uniprot.org/uniprotkb/Q9JKA3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JKA3-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asn166", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 166, "start_aa": "Asn", "end_pos": 166, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn166", "evidence": [ { "id": "Q9JKA3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JKA3#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.20" }, { "uniprot_canonical_ac": "Q9JKE2-1", "species": [ { "name": "Mus musculus", "taxid": 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The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "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: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: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: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:3798", "name": "pleural empyema", "description": "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.", "url": "https://disease-ontology.org/term/DOID:3798", "evidence": [ { "id": "3798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3798" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "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 } ], "biological_process": [ { "name": "neutrophil-mediated killing of gram-negative bacterium", "id": "GO:0070945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070945", "evidence": [ { "database": "UniProtKB", "id": "Q9JKE2", "url": "https://www.uniprot.org/uniprotkb/Q9JKE2" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413101202" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Ala1367", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240272", "evidence": [ { "id": "rs3389269651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269651" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1369", "end_pos": "1369", "site_lbl": "His1369", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119240264", "evidence": [ { "id": "rs3389269597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269597" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1395", "end_pos": "1395", "site_lbl": "Asp1395", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119239246", "evidence": [ { "id": "rs3413151136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413151136" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Arg1396", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119239245_119239246insCCACACTACCTCAACCA", "evidence": [ { "id": "rs3389363544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363544" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1418", "end_pos": "1418", "site_lbl": "Leu1418", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235622", "evidence": [ { "id": "rs3389350240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350240" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1437", "end_pos": "1437", "site_lbl": "Trp1437", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235565", "evidence": [ { "id": "rs3551531704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551531704" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1441", "end_pos": "1441", "site_lbl": "Trp1441", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235552", "evidence": [ { "id": "rs3389350202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350202" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1445", "end_pos": "1445", "site_lbl": "Glu1445", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119235541", "evidence": [ { "id": "rs3389343977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343977" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1463", "end_pos": "1463", "site_lbl": "Glu1463", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232463", "evidence": [ { "id": "rs3389350178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350178" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1469", "end_pos": "1469", "site_lbl": "Ala1469", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232445", "evidence": [ { "id": "rs3389347626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347626" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Leu146", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119328085", "evidence": [ { "id": "rs3389337955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389337955" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "1496", "end_pos": "1496", "site_lbl": "Ser1496", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232363", "evidence": [ { "id": "rs3389300880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300880" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119232362", "evidence": [ { "id": "rs3389300958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300958" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Val176", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119326684", "evidence": [ { "id": "rs48589573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48589573" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Thr19", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119336698", "evidence": [ { "id": "rs3389354734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354734" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Tyr219", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323625", "evidence": [ { "id": "rs246713616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246713616" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ala22", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119266433", "evidence": [ { "id": "rs49716497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49716497" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Lys235", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323577", "evidence": [ { "id": "rs3389311657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311657" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Thr240", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119323561", "evidence": [ { "id": "rs3389363545", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363545" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Thr245", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119286601", "evidence": [ { "id": "rs3551531548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551531548" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Val256", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321303", "evidence": [ { "id": "rs50118097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50118097" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Phe262", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "WLR*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321285_119321286insCTCCACACTACCTCA", "evidence": [ { "id": "rs3389350042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350042" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Leu263", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119321282", "evidence": [ { "id": "rs3389343984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389343984" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Gln301", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119319119", "evidence": [ { "id": "rs3389349987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389349987" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Gln306", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119315151", "evidence": [ { "id": "rs3389363513", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363513" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Arg347", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119312768", "evidence": [ { "id": "rs3551374421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551374421" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "364", "end_pos": "364", "site_lbl": "Lys364", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308290", "evidence": [ { "id": "rs3389300956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300956" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Phe371", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308268", "evidence": [ { "id": "rs3389350233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350233" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Arg376", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119308253", "evidence": [ { "id": "rs49432098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49432098" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Leu39", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119266380", "evidence": [ { "id": "rs3389318071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389318071" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Leu3", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119336747", "evidence": [ { "id": "rs222125728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222125728" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "419", "end_pos": "419", "site_lbl": "Ser419", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119298705", "evidence": [ { "id": "rs242199668", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242199668" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Val421", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119298698", "evidence": [ { "id": "rs3389300934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300934" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Thr522", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119295060", "evidence": [ { "id": "rs3389318018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389318018" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Arg559", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292123", "evidence": [ { "id": "rs227612327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227612327" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Ile560", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292120", "evidence": [ { "id": "rs257289533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257289533" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292095", "evidence": [ { "id": "rs227111446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227111446" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Pro575", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292074", "evidence": [ { "id": "rs3404241752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404241752" } ] } ] }, { "uniprot_canonical_ac": "E9Q4X2-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Ala577", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "119292068", "evidence": [ { "id": "rs3405449303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405449303" } ] } ] }, { 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