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"reference_species": "Mus musculus [10090]" } ], "length": 804, "chemical_mass": 93463.0, "gene_names": "Ttll13;1700111A04Rik;4921538O11;Ttll13", "protein_name": "Tubulin polyglutamylase TTLL13", "disease": [], "molecular_function": [ { "name": "tubulin-glutamic acid ligase activity", "id": "GO:0070740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070740", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F6", "url": "https://www.uniprot.org/uniprotkb/A4Q9F6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F6", "url": "https://www.uniprot.org/uniprotkb/A4Q9F6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F6", "url": "https://www.uniprot.org/uniprotkb/A4Q9F6" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", 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formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "A4Q9F6", "url": "https://www.uniprot.org/uniprotkb/A4Q9F6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A4Q9F6-1" }, { "uniprot_canonical_ac": "Q8BGE7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 488, "chemical_mass": 56152.0, "gene_names": "Trim6;C430046K18Rik;D7Ertd684e;Trim6", "protein_name": "Tripartite motif-containing protein 6", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], 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} ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q8BGE7", "url": "https://www.uniprot.org/uniprotkb/Q8BGE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BGE7-1" }, { "uniprot_canonical_ac": "Q91YD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91YD4", "url": "https://www.uniprot.org/uniprotkb/Q91YD4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1506, "chemical_mass": 172202.0, "gene_names": "Trpm2;9830168K16Rik;LTRPC2;Ltrpc2;TRPC7;Trp7;Trpc7;Trpm2;Trrp7", "protein_name": "Transient receptor potential cation channel subfamily M member 2", "disease": [ { "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 } ], "biological_process": [ { "name": "zinc ion transmembrane transport", "id": "GO:0071577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071577", "evidence": [ { "database": "UniProtKB", "id": "Q91YD4", "url": "https://www.uniprot.org/uniprotkb/Q91YD4" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "Q91YD4", "url": "https://www.uniprot.org/uniprotkb/Q91YD4" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": 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"database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "hyperosmotic salinity response", "id": "GO:0042538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042538", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-C motif) ligand 5 production", "id": "GO:0071651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071651", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of striated muscle contraction", "id": "GO:0045989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045989", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "vasopressin secretion", "id": "GO:0030103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030103", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cellular hypotonic salinity response", "id": "GO:0071477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071477", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cortical microtubule organization", "id": "GO:0043622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071642", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "regulation of response to osmotic stress", "id": "GO:0047484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047484", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "hypotonic response", "id": "GO:0006971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006971", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 1 production", "id": "GO:2000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000340", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "blood vessel endothelial cell delamination", "id": "GO:0097497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097497", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "negative regulation of brown fat cell differentiation", "id": "GO:1903444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903444", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import into cytosol", "id": "GO:1902656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902656", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "osmosensor activity", "id": "GO:0005034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005034", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "stretch-activated, monoatomic cation-selective, calcium channel activity", "id": "GO:0015275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015275", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Asn651", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 651, "start_aa": "Asn", "end_pos": 651, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "evidence": [ { "id": "Q9EPK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8#ptm_processing" }, { "id": "16368742", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16368742" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of a probable N-glycosylation site. Increased expression at the cell membrane, leading to increased ion currents.", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "PubMed", "id": "16368742", "url": "https://glygen.org/publication/PubMed/16368742" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Tyr110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "iPTMnet", "id": "Q9EPK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPK8" }, { "database": "PubMed", "id": "19033444", "url": "https://glygen.org/publication/PubMed/19033444" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Increases protein abundance at plasma membrane. Greatly reduces channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "PubMed", "id": "19033444", "url": "https://glygen.org/publication/PubMed/19033444" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Tyr253", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "iPTMnet", "id": "Q9EPK8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9EPK8" }, { "database": "PubMed", "id": "12538589", "url": "https://glygen.org/publication/PubMed/12538589" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Results are conflicting as to whether hypotonicity-dependent channel activity is abolished.", "evidence": [ { "database": "UniProtKB", "id": 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"evidence": [ { "database": "UniProtKB", "id": "D3YX67", "url": "https://www.uniprot.org/uniprotkb/D3YX67" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3YX67", "url": "https://www.uniprot.org/uniprotkb/D3YX67" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3YX67-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Thr60", "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": 60, "start_aa": "Thr", "end_pos": 60, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr60", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "D3YX67-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Lys170", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "10", "chr_pos": "100448799", "evidence": [ { "id": "rs3389123130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389123130" } ] } ] } ], "record_id": "D3YX67-1" }, { "uniprot_canonical_ac": "Q921F2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 414, "chemical_mass": 44548.0, "gene_names": "Tardbp;1190002A23Rik;TDP-43;Tardbp;Tdp43", "protein_name": "TAR DNA-binding protein 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"description": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.", "url": "https://disease-ontology.org/term/DOID:0060672", "evidence": [ { "id": "0060672", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060672" } ], "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:11870", "name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. 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"pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "host-mediated suppression of viral transcription", "id": "GO:0043922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043922", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "nuclear inner membrane organization", "id": "GO:0071765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071765", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" } ], "cellular_component": [ { "name": "perichromatin fibrils", "id": "GO:0005726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005726", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "nucleus", "id": 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"reference_species": "Mus musculus [10090]" } ], "length": 346, "chemical_mass": 36155.0, "gene_names": "Suclg1;1500000I01Rik;Sucla1;Suclg1", "protein_name": "Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0080128", "name": "mitochondrial DNA depletion syndrome 9", "description": "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.", "url": "https://disease-ontology.org/term/DOID:0080128", "evidence": [ { "id": "0080128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080128" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": 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"id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM5", "url": "https://www.uniprot.org/uniprotkb/Q9WUM5" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM5", "url": "https://www.uniprot.org/uniprotkb/Q9WUM5" } ], "pmid": "" }, { "name": "succinate-CoA ligase (ADP-forming) activity", "id": "GO:0004775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004775", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM5", "url": "https://www.uniprot.org/uniprotkb/Q9WUM5" } ], "pmid": "" }, { "name": "succinate-CoA ligase (GDP-forming) activity", "id": "GO:0004776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004776", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM5", "url": "https://www.uniprot.org/uniprotkb/Q9WUM5" } ], "pmid": "" }, { "name": "malate-CoA ligase activity", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "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": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "peptidyl-threonine 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"name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "anoikis", "id": "GO:0043276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043276", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "dendrite 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transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "Golgi localization", "id": "GO:0051645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051645", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of vesicle transport along microtubule", "id": "GO:1901610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901610", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" } ], "cellular_component": [ { "name": "serine/threonine protein kinase complex", "id": "GO:1902554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902554", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", 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], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Thr189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Tyr261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" }, { "database": "PubMed", "id": "18854309", "url": "https://glygen.org/publication/PubMed/18854309" }, { "database": "PubMed", "id": "20142099", "url": "https://glygen.org/publication/PubMed/20142099" }, { "database": "PubMed", "id": "24586906", "url": "https://glygen.org/publication/PubMed/24586906" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "32841502", "url": "https://glygen.org/publication/PubMed/32841502" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in kinase activity; when associated with A-325; A-336 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in kinase activity; when associated with A-31; A-336 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "22611470", "url": "https://glygen.org/publication/PubMed/22611470" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Thr336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes ability to suppress cell growth. Decreased phosphorylation; when associated with A-366. No change in kinase activity; when associated with A-31; A-325 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Tyr365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" }, { "database": "PubMed", "id": "18854309", "url": "https://glygen.org/publication/PubMed/18854309" }, { "database": "PubMed", "id": "20142099", "url": "https://glygen.org/publication/PubMed/20142099" }, { "database": "PubMed", "id": "24586906", "url": "https://glygen.org/publication/PubMed/24586906" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Thr366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "12234250", "url": "https://glygen.org/publication/PubMed/12234250" }, { "database": "PubMed", "id": "20864035", "url": "https://glygen.org/publication/PubMed/20864035" }, { "database": "PubMed", "id": "25329316", "url": "https://glygen.org/publication/PubMed/25329316" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Diminished interaction with CDKN1A and impaired ability to repair UV-induced DNA damage by affecting CDKN1AUV-induced degradation. Decreased phosphorylation; when associated with A-336. No change in kinase activity; when associated with A-31; A-325 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "PubMed", "id": "25329316", "url": "https://glygen.org/publication/PubMed/25329316" }, { "database": "PubMed", "id": "20864035", "url": "https://glygen.org/publication/PubMed/20864035" }, { "database": "PubMed", "id": "12234250", "url": "https://glygen.org/publication/PubMed/12234250" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Tyr36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "24295069", "url": "https://glygen.org/publication/PubMed/24295069" }, { "database": "PubMed", "id": "27849007", "url": "https://glygen.org/publication/PubMed/27849007" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" }, { "database": "PubMed", "id": "17482548", "url": "https://glygen.org/publication/PubMed/17482548" }, { "database": "PubMed", "id": "17482549", "url": "https://glygen.org/publication/PubMed/17482549" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not prevent S-farnesylation. Defects in neuron polarization.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "17482548", "url": "https://glygen.org/publication/PubMed/17482548" }, { "database": "PubMed", "id": "17482549", "url": "https://glygen.org/publication/PubMed/17482549" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Asp194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity and descreased phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Cys433", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect nuclear localization. Does not prevent phosphorylation at S-431.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Lys78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] } ], "record_id": "Q9WTK7-1" }, { "uniprot_canonical_ac": "Q9DBG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 937, "chemical_mass": 104583.0, "gene_names": "Ap2b1;1300012O03Rik;AP105B;Ap2b1;Clapb1", "protein_name": "AP-2 complex subunit beta", "disease": [ { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin coat", "id": "GO:0030118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030118", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin adaptor complex", "id": "GO:0030131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic endocytic zone membrane", "id": "GO:0098894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098894", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" } ], "biological_process": [ { "name": "postsynaptic neurotransmitter receptor internalization", "id": "GO:0098884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098884", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": 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The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.", "url": "https://disease-ontology.org/term/DOID:13767", "evidence": [ { "id": "13767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13767" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:303", "name": "substance-related disorder", "description": "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.", "url": "https://disease-ontology.org/term/DOID:303", "evidence": [ { "id": "303", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:303" } ], "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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6688", "name": "autoimmune lymphoproliferative syndrome", "description": "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.", "url": "https://disease-ontology.org/term/DOID:6688", "evidence": [ { "id": "6688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6688" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "negative regulation of 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"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": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "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": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "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": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "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": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "endosomal lumen acidification", "id": "GO:0048388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048388", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "necroptotic signaling pathway", "id": "GO:0097527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097527", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "T cell apoptotic process", "id": "GO:0070231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070231", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "inflammatory cell apoptotic process", "id": "GO:0006925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006925", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylserine exposure on apoptotic cell surface", "id": "GO:1905782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905782", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "cytoplasmic vesicle lumen", "id": "GO:0060205", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10533", "name": "viral pneumonia", "description": "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:10533", "evidence": [ { "id": "10533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10533" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID: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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3265", "name": "chronic granulomatous disease", "description": "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.", "url": "https://disease-ontology.org/term/DOID:3265", "evidence": [ { "id": "3265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3265" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of B cell differentiation", "id": "GO:0045577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045577", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": 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Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.", "url": "https://disease-ontology.org/term/DOID:0050157", "evidence": [ { "id": "0050157", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050157" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080745", "name": "polymyositis", "description": "A myositis that is characterized by muscle weakness affecting both sides of your body.", "url": "https://disease-ontology.org/term/DOID:0080745", "evidence": [ { "id": "0080745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080745" } ], "weight": 0.0 }, { "disease_id": "DOID:0090018", "name": "TNF receptorassociated periodic syndrome", "description": "An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0090018", "evidence": [ { "id": "0090018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090018" } ], "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: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:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14550", "name": "root resorption", "description": "", "url": "https://disease-ontology.org/term/DOID:14550", "evidence": [ { "id": "14550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14550" } ], "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: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: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:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3355", "name": "fibrosarcoma", "description": "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.", "url": "https://disease-ontology.org/term/DOID:3355", "evidence": [ { "id": "3355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3355" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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: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": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "regulation of establishment of endothelial barrier", "id": "GO:1903140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903140", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": 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"database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "protein deubiquitination involved in ubiquitin-dependent protein catabolic process", "id": "GO:0071947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071947", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor 3 signaling pathway", "id": "GO:0034140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034140", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "protein K11-linked deubiquitination", "id": "GO:0035871", 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"uniprot_canonical_ac": "Q8R1R3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 43144.0, "gene_names": "Stard7;Stard7", "protein_name": "StAR-related lipid transfer protein 7, mitochondrial", "disease": [ { "disease_id": "DOID:0111692", "name": "familial adult myoclonic epilepsy 2", "description": "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2.", "url": "https://disease-ontology.org/term/DOID:0111692", "evidence": [ { "id": "0111692", "database": "AGR", "url": 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"id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "type 2 immune response", "id": "GO:0042092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042092", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "mitochondrial membrane organization", "id": "GO:0007006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007006", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "mucociliary clearance", "id": "GO:0120197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120197", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "intermembrane phospholipid transfer", "id": "GO:0120010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120010", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "phosphatidylcholine transfer activity", "id": "GO:0120019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120019", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": "https://www.uniprot.org/uniprotkb/Q8R1R3" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "Q8R1R3", "url": 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"P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "spermatid nucleus elongation", "id": "GO:0007290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007290", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10856-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ] } ] }, { "uniprot_canonical_ac": "P10856-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ser40", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P10856", "url": "https://www.uniprot.org/uniprotkb/P10856" } ] } ] } ], "record_id": "P10856-1" }, { "uniprot_canonical_ac": "P33242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P33242", "url": "https://www.uniprot.org/uniprotkb/P33242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 462, "chemical_mass": 52077.0, "gene_names": "Nr5a1;Ad4BP;ELP-3;ELP;Ftz-F1;Ftzf1;Nr5a1;SF-1;SF1;STF-1", "protein_name": "Steroidogenic factor 1", "disease": [ { "disease_id": "DOID:0070169", "name": "spermatogenic failure 8", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 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sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.", "url": "https://disease-ontology.org/term/DOID:14447", "evidence": [ { "id": "14447", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14447" } ], "weight": 0.0 }, { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.", "url": "https://disease-ontology.org/term/DOID:905", "evidence": [ { "id": "905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:905" } ], "weight": 0.0 } ], "biological_process": [ { "name": "sex determination", "id": "GO:0007530", "url": 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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: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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and 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"UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "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": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "P54763", "url": "https://www.uniprot.org/uniprotkb/P54763" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { 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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 } ], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "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": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling pathway", "id": "GO:0060340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060340", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein exit from endoplasmic reticulum", "id": "GO:0032527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032527", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cGAS/STING signaling pathway", "id": "GO:0140896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140896", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of cGAS/STING signaling pathway", "id": "GO:0141111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141111", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "STING complex", "id": "GO:1990231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990231", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "proton channel activity", "id": "GO:0015252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015252", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cyclic-di-GMP binding", "id": "GO:0035438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035438", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "2',3'-cyclic GMP-AMP binding", "id": "GO:0061507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061507", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "iron-sulfur cluster binding", "id": "GO:0051536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051536", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the aldehyde or oxo group of donors, iron-sulfur protein as acceptor", "id": "GO:0016625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016625", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3TBT3-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Ser240", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ] } ] }, { "uniprot_canonical_ac": "Q3TBT3-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Ser354", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ] } ] }, { "uniprot_canonical_ac": "Q3TBT3-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Ser357", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" }, { "database": "iPTMnet", "id": "Q3TBT3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3TBT3" }, { "database": "PubMed", "id": "25636800", "url": "https://glygen.org/publication/PubMed/25636800" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Induces a decrease in phosphorylation by TBK1, leading to reduced ability to activate IRF3.", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" }, { "database": 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reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of protein import", "id": "GO:1904591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904591", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "auditory receptor cell development", "id": "GO:0060117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060117", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" }, { "name": "catecholamine catabolic process", "id": "GO:0042424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042424", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" } ], "molecular_function": [ { "name": "catechol O-methyltransferase activity", "id": "GO:0016206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016206", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A1Y9I9-1", "start_pos": "108", "end_pos": "108", "site_lbl": "Tyr108", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Is able to rescue the mechanotransduction defect of L-48.", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" }, { "database": "PubMed", "id": "28504928", "url": "https://glygen.org/publication/PubMed/28504928" } ] } ] }, { "uniprot_canonical_ac": "A1Y9I9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Enhanced interaction with TMC1.", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" }, { "database": "PubMed", "id": "28534737", "url": "https://glygen.org/publication/PubMed/28534737" } ] } ] }, { "uniprot_canonical_ac": "A1Y9I9-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Arg48", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "In add; reduces methyltransferase activity; causes hyperkinesis, circling, head-tossing, aggression, progressive degeneration of the organ of Corti, hair cell defects and profound deafness. Distortion product otoacoustic emissions (DPOAEs) are absent at 4 weeks of age at all frequencies tested. At postnatal day (P) 5 the sensory epithelia are patterned into three rows of outer hair cells (OHCs) and one row of inner hair cells (IHCs) with no obvious structural abnormalities. The bundles of OHCs appear similar in size to those of wild-type mice and form a normal staircase pattern. The hair bundles of OHCs have a slightly more rounded morphology, especially in basal regions of the cochlea. The morphology of IHCs is not significantly altered. Hair cells are maintained in the presence of gentamicin, an aminoglycoside antibiotic that enters hair cells through their transduction channels and normally causes hair cell death. Mechanotransduction currents are very small in P4 hair cells and completely absent in P7 hair cells. Membrane potential, outward-evoked currents and nonlinear capacitance are normal in OHCs. No difference in the expression or localization of tip link proteins CDH23 and PCDH15 or ATP2B2, MYO7A, ESPN and WHRN proteins at P5-P8 in hair bundles of hair cells. No difference in the number of tip links in IHCs and OHCs at P7-P8. No difference in the levels of catecholamines, including norepinephrine, homovanillic acid (HVA) and norepinephrine, or serotonin levels in the inner ear. Loss of reverse polarity currents.", "evidence": [ { "database": "UniProtKB", "id": "A1Y9I9", "url": "https://www.uniprot.org/uniprotkb/A1Y9I9" }, { "database": "PubMed", "id": "18794526", "url": "https://glygen.org/publication/PubMed/18794526" }, { "database": "PubMed", "id": "28504928", "url": "https://glygen.org/publication/PubMed/28504928" } ] } ] } ], "record_id": "A1Y9I9-1" }, { "uniprot_canonical_ac": "Q9ESG4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 222, "chemical_mass": 25070.0, "gene_names": "Cltrn;0610008J07Rik;Cltrn;NX-17;NX17;Nx17;Tmem27", "protein_name": "Collectrin", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": 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"UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "pmid": "" } ], "biological_process": [ { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "pmid": "" }, { "name": "positive regulation of amino acid transport", "id": "GO:0051957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051957", "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "pmid": "" }, { "name": "amino acid import across plasma membrane", "id": "GO:0089718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089718", "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "pmid": "" }, { "name": "positive regulation of L-proline import across plasma membrane", "id": "GO:1905737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905737", "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ESG4-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Asn76", "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": 76, "start_aa": "Asn", "end_pos": 76, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn76", "evidence": [ { "id": "Q9ESG4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ESG4-1", "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": "Q9ESG4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9ESG4-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Thr214", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ESG4", "url": "https://www.uniprot.org/uniprotkb/Q9ESG4" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9ESG4", "url": 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"Tmf1;7030402D04Rik;Ara160;Gm153;Tmf1`;Tmf1", "protein_name": "TATA element modulatory factor", "disease": [], "biological_process": [ { "name": "luteinizing hormone secretion", "id": "GO:0032275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032275", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "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": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "spermatid nucleus differentiation", "id": "GO:0007289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007289", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "regulation of proteasomal protein catabolic process", "id": "GO:0061136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061136", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "positive regulation of testosterone secretion", "id": "GO:2000845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000845", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "B9EKI3", "url": "https://www.uniprot.org/uniprotkb/B9EKI3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": 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inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": 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"url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of antigen processing and presentation of peptide antigen via MHC class II", "id": "GO:0002588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002588", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "regulation of resting membrane potential", "id": "GO:0060075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060075", 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"respiratory burst after phagocytosis", "id": "GO:0045728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045728", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "negative regulation of macrophage colony-stimulating factor signaling pathway", "id": "GO:1902227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902227", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of high-density lipoprotein particle clearance", "id": "GO:0010983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010983", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "cellular response to lipid", "id": "GO:0071396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071396", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in inflammatory response", "id": "GO:1900015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900015", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { 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"negative regulation of neuroinflammatory response", "id": "GO:0150079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150079", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "neuroinflammatory response", "id": "GO:0150076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150076", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071640", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "regulation of plasma membrane bounded cell projection organization", "id": "GO:0120035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120035", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of CAMKK-AMPK signaling cascade", "id": "GO:1905291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905291", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "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": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "cellular response to lipoprotein particle stimulus", "id": "GO:0071402", "url": 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"GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "phosphatidylethanolamine binding", "id": "GO:0008429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": 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"name": "regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001236", "evidence": [ { "database": "UniProtKB", "id": "P39428", "url": "https://www.uniprot.org/uniprotkb/P39428" } ], "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": "P39428", "url": "https://www.uniprot.org/uniprotkb/P39428" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "P39428", "url": "https://www.uniprot.org/uniprotkb/P39428" } ], "pmid": "" }, { "name": "positive regulation of pyroptotic inflammatory response", "id": "GO:0140639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140639", "evidence": [ { "database": "UniProtKB", "id": "P39428", "url": "https://www.uniprot.org/uniprotkb/P39428" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P39428-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P39428", "url": "https://www.uniprot.org/uniprotkb/P39428" }, { "database": "PubMed", "id": "18429822", "url": "https://glygen.org/publication/PubMed/18429822" }, { "database": "PubMed", "id": "23376065", "url": "https://glygen.org/publication/PubMed/23376065" }, { "database": "iPTMnet", "id": "P39428", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P39428" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation site. 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"database": "PubMed", "id": "23542741", "url": "https://glygen.org/publication/PubMed/23542741" } ] } ] } ], "record_id": "P39428-1" }, { "uniprot_canonical_ac": "Q3U0V2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 310, "chemical_mass": 34577.0, "gene_names": "Tradd;9130005N23Rik;Tradd", "protein_name": "Tumor necrosis factor receptor type 1-associated DEATH domain protein", "disease": [], "molecular_function": [ { "name": "death domain binding", "id": "GO:0070513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070513", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor binding", "id": "GO:0005164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005164", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase adaptor activity", "id": "GO:0005068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005068", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor superfamily complex", "id": "GO:0002947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002947", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "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": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "canonical NF-kappaB 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"" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "TRAIL-activated apoptotic signaling pathway", "id": "GO:0036462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036462", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "positive regulation of hair follicle development", "id": "GO:0051798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051798", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q3U0V2", "url": "https://www.uniprot.org/uniprotkb/Q3U0V2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3U0V2-1" }, { "uniprot_canonical_ac": "P29812-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P29812", "url": "https://www.uniprot.org/uniprotkb/P29812" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 517, "chemical_mass": 58510.0, "gene_names": "Dct;DT;Dct;TRP-2;TRP2;Tyrp-2;Tyrp2;slaty;slt", "protein_name": "L-dopachrome tautomerase", "disease": [ { "disease_id": "DOID:0050632", "name": "oculocutaneous albinism", "description": "A syndrome characterized by 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"https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "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": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "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": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": 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"P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "positive regulation of T cell cytokine production", "id": "GO:0002726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002726", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P70196" } ], "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": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "protein autoubiquitination", "id": "GO:0051865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051865", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P70196", 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"https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "interleukin-33-mediated signaling pathway", "id": "GO:0038172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038172", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "interleukin-17A-mediated signaling pathway", "id": "GO:0038173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038173", "evidence": 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"https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": "https://www.uniprot.org/uniprotkb/P70196" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P70196", "url": 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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: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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:1903588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903588", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "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": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "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": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "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": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "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": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" 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"id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "negative regulation of calcium ion transport", "id": "GO:0051926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051926", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "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": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "O88623", "url": "https://www.uniprot.org/uniprotkb/O88623" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle tissue development", "id": "GO:0048642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048642", "evidence": [ 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"https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive 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"https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": 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apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cellular response to laminar fluid shear stress", "id": "GO:0071499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071499", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { 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stress", "id": "GO:0071498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071498", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "sterol homeostasis", "id": "GO:0055092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055092", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "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": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "epithelial cell maturation involved in salivary gland development", "id": "GO:0060691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060691", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of plasma cell differentiation", "id": "GO:1900100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900100", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "positive regulation of lactation", "id": "GO:1903489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903489", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "serotonin secretion, neurotransmission", "id": "GO:0060096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060096", 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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 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "positive regulation of interleukin-5 production", "id": "GO:0032754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032754", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "establishment of endothelial barrier", "id": "GO:0061028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061028", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "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": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1902514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902514", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "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": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cellular response to epinephrine stimulus", "id": "GO:0071872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071872", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "negative regulation of heart contraction", "id": "GO:0045822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045822", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "regulation of cell communication by electrical coupling involved in cardiac conduction", "id": "GO:1901844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901844", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "ovulation from ovarian follicle", "id": "GO:0001542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001542", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cAMP catabolic process", "id": "GO:0006198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006198", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "regulation of G protein-coupled receptor signaling pathway", "id": "GO:0008277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008277", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106072", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "negative regulation of cAMP/PKA signal transduction", "id": "GO:0141162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141162", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "3',5'-cyclic-GMP phosphodiesterase activity", "id": "GO:0047555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047555", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "3',5'-cyclic-nucleotide phosphodiesterase activity", "id": "GO:0004114", "url": 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"GO:0030545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030545", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" } ], "cellular_component": [ { "name": "potassium channel complex", "id": "GO:0034705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034705", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q01063", "url": "https://www.uniprot.org/uniprotkb/Q01063" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"reference_species": "Mus musculus [10090]" } ], "length": 2377, "chemical_mass": 250934.0, "gene_names": "Wnk1;6430573H23Rik;EG406236;Hsn2;Prkwnk1;Wnk1;mKIAA0344", "protein_name": "Serine/threonine-protein kinase WNK1", "disease": [ { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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], "pmid": "" }, { "name": "regulation of mRNA export from nucleus", "id": "GO:0010793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010793", "evidence": [ { "database": "UniProtKB", "id": "P83741", "url": "https://www.uniprot.org/uniprotkb/P83741" } ], "pmid": "" }, { "name": "negative regulation of kinase activity", "id": "GO:0033673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "P83741", "url": "https://www.uniprot.org/uniprotkb/P83741" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "P83741", "url": "https://www.uniprot.org/uniprotkb/P83741" } ], "pmid": "" }, { "name": "negative regulation of leukocyte cell-cell adhesion", "id": "GO:1903038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903038", "evidence": [ { "database": "UniProtKB", "id": "P83741", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486230" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Ile165", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999044", "evidence": [ { "id": "rs3388488535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488535" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ala167", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999050", "evidence": [ { "id": "rs233044261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233044261" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Arg168", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999053", "evidence": [ { "id": "rs3388488565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488565" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ala179", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999087", "evidence": [ { "id": "rs13468242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468242" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999122", "evidence": [ { "id": "rs217111743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217111743" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asp197", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999141", "evidence": [ { "id": "rs3539464220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539464220" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Leu209", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999177", "evidence": [ { "id": "rs3388485365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485365" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Phe221", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999213", "evidence": [ { "id": "rs1131866191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131866191" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Arg223", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999219", "evidence": [ { "id": "rs1135368249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135368249" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ala225", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999225", "evidence": [ { "id": "rs3539457766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457766" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ala229", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999236", "evidence": [ { "id": "rs3388485402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485402" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Phe243", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999278", "evidence": [ { "id": "rs3388486210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486210" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ile248", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999293", "evidence": [ { "id": "rs3388485894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485894" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Trp249", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999298", "evidence": [ { "id": "rs3388485447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485447" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Leu251", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999304", "evidence": [ { "id": "rs30306415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306415" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999302", "evidence": [ { "id": "rs229615735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229615735" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Arg252", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999306", "evidence": [ { "id": "rs1134122593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134122593" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Gly271", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999363", "evidence": [ { "id": "rs3388486882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486882" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ala287", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142776", "evidence": [ { "id": "rs3388485785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485785" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Glu294", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142796", "evidence": [ { "id": "rs3539454443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454443" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Pro310", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142844", "evidence": [ { "id": "rs3539457645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457645" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Arg323", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142884", "evidence": [ { "id": "rs3539455042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455042" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Thr327", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142896", "evidence": [ { "id": "rs47208592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47208592" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Val328", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143517", "evidence": [ { "id": "rs3539457654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457654" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143548", "evidence": [ { "id": "rs1133694053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133694053" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Leu346", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143571", "evidence": [ { "id": "rs3539459893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539459893" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Trp349", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143580", "evidence": [ { "id": "rs3388484765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484765" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Pro351", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143587", "evidence": [ { "id": "rs3539454069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454069" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "358", "end_pos": "358", "site_lbl": "His358", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143862", "evidence": [ { "id": "rs3388486417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486417" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "35", "end_pos": "35", "site_lbl": "His35", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87998656", "evidence": [ { "id": "rs30306420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306420" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Thr366", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143887", "evidence": [ { "id": "rs48157063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48157063" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "371", "end_pos": "371", "site_lbl": "His371", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143901", "evidence": [ { "id": "rs46352019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352019" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Pro382", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143935", "evidence": [ { "id": "rs49604602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49604602" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ala396", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143976", "evidence": [ { "id": "rs48308731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48308731" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Arg398", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143982", "evidence": [ { "id": "rs3388485503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485503" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143983", "evidence": [ { "id": "rs49274850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49274850" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Arg402", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Met41", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87998673", "evidence": [ { "id": "rs30306419", "database": "dbSNP", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by circulatory renin-angiotensin", "id": "GO:0001991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001991", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "renin-angiotensin regulation of aldosterone production", "id": "GO:0002018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002018", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "brain renin-angiotensin system", "id": "GO:0002035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002035", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P29754", "url": "https://www.uniprot.org/uniprotkb/P29754" } ], "pmid": "" 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"DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": 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"https://www.alliancegenome.org/disease/DOID:1287" } ], "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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1390", "name": "hypobetalipoproteinemia", "description": "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.", "url": "https://disease-ontology.org/term/DOID:1390", "evidence": [ { "id": "1390", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1390" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4606", "evidence": [ { "id": "4606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ], "weight": 0.0 }, { "disease_id": "DOID:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "regulation of cholesterol biosynthetic process", "id": "GO:0045540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045540", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "triglyceride mobilization", "id": "GO:0006642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006642", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of cholesterol storage", "id": "GO:0010886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010886", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "foam cell differentiation", "id": "GO:0090077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090077", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cellular response to lipoprotein particle stimulus", "id": "GO:0071402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071402", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipase binding", "id": "GO:0035473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035473", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid 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"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: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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of the force of heart contraction by epinephrine", "id": "GO:0003059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003059", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "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": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "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": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "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": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "negative regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045744", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "negative regulation of urine volume", "id": "GO:0035811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035811", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting adrenergic receptor signaling pathway", "id": "GO:0071881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071881", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002025", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "heat generation", "id": "GO:0031649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031649", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "negative regulation of multicellular organism growth", "id": "GO:0040015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040015", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": 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"cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": 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"https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "AIM2 inflammasome complex", "id": "GO:0097169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097169", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity", "id": "GO:0140608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140608", "evidence": [ { "database": "UniProtKB", "id": "Q91VJ1", "url": "https://www.uniprot.org/uniprotkb/Q91VJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91VJ1-1" }, { "uniprot_canonical_ac": "Q05910-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 826, "chemical_mass": 90046.0, "gene_names": "Adam8;ADAM 8;Adam8;CD156a;CD156;E430039A18Rik;MS2;Ms2", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 8", "disease": [ { "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. 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"url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor superfamily binding", "id": "GO:0032813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032813", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": 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"GO:0070245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070245", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor (ligand) superfamily member 11 production", "id": "GO:2000309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000309", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of neutrophil extravasation", "id": "GO:2000391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000391", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of fibronectin-dependent thymocyte migration", "id": "GO:2000415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000415", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of eosinophil migration", "id": "GO:2000418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000418", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": "https://www.uniprot.org/uniprotkb/Q05910" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q05910", "url": 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}, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "mesenchymal-epithelial cell signaling", "id": "GO:0060638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060638", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "notochord morphogenesis", "id": "GO:0048570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048570", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of melanin biosynthetic process", "id": "GO:0048022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048022", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "melanocyte proliferation", "id": "GO:0097325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097325", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "signal 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"id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of thymocyte apoptotic process", "id": "GO:0070245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070245", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000049", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", 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response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "mammary gland branching involved in thelarche", "id": "GO:0060744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060744", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in mammary gland duct elongation", "id": "GO:0060750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060750", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of JUN kinase activity", "id": "GO:0043507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043507", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "vagina development", "id": "GO:0060068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060068", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "olfactory bulb interneuron development", "id": "GO:0021891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021891", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of macrophage cytokine production", "id": "GO:0060907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060907", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in immune response", "id": "GO:0002720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002720", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling pathway", "id": "GO:0060340", "url": 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of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "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": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of axon extension involved in axon guidance", "id": "GO:0048843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048843", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "chemorepulsion of dopaminergic neuron axon", "id": "GO:0036518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036518", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "anterior/posterior axis specification, embryo", "id": "GO:0008595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008595", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "establishment of planar polarity", "id": "GO:0001736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001736", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cellular response to molecule of bacterial origin", "id": "GO:0071219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071219", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of protein kinase C activity", "id": "GO:1900020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900020", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of non-canonical Wnt signaling pathway", "id": "GO:2000052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000052", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cervix development", "id": "GO:0060067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060067", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "development of primary male sexual characteristics", "id": "GO:0046546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046546", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "primary heart field specification", "id": "GO:0003138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003138", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "urinary bladder development", "id": "GO:0060157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060157", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "tube closure", "id": "GO:0060606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060606", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of synapse assembly", "id": "GO:0051964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051964", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "chemoattraction of serotonergic neuron axon", "id": "GO:0036517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036517", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "positive regulation of timing of anagen", "id": "GO:0051885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051885", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation in midbrain", "id": "GO:1904934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904934", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P22725", "url": "https://www.uniprot.org/uniprotkb/P22725" } ], "pmid": "" }, { "name": "regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:0099566", "url": 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surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", 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"https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111128", "name": "focal segmental glomerulosclerosis 1", "description": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.", "url": "https://disease-ontology.org/term/DOID:0111128", "evidence": [ { "id": "0111128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111128" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "negative regulation of calcium ion import", "id": "GO:0090281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090281", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "neutrophil mediated immunity", "id": "GO:0002446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002446", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by renin-angiotensin", "id": "GO:0003081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003081", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "positive regulation of systemic arterial blood pressure", "id": "GO:0003084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003084", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "post-transcriptional regulation of gene expression", "id": "GO:0010608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010608", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell migration", "id": "GO:0014910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014910", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "hormone catabolic process", "id": "GO:0042447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042447", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of angiotensin metabolic process", "id": "GO:0060177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060177", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "cell proliferation in bone marrow", "id": "GO:0071838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071838", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "regulation of hematopoietic stem cell proliferation", "id": "GO:1902033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902033", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "negative regulation of gap junction assembly", "id": "GO:1903597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903597", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "peptide metabolic process", "id": "GO:0006518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006518", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "bradykinin catabolic process", "id": "GO:0010815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010815", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "angiogenesis involved in coronary vascular morphogenesis", "id": "GO:0060978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060978", "evidence": [ { "database": "UniProtKB", "id": "P09470", "url": "https://www.uniprot.org/uniprotkb/P09470" } ], "pmid": "" }, { "name": "substance P 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characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q00897", "url": "https://www.uniprot.org/uniprotkb/Q00897" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q00897", "url": "https://www.uniprot.org/uniprotkb/Q00897" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00897", "url": 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"actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "I band", "id": "GO:0031674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031674", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" } ], "biological_process": [ { "name": "cytoplasmic actin-based contraction involved in cell motility", "id": "GO:0060327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060327", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "skeletal muscle thin filament assembly", "id": "GO:0030240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030240", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "mesenchyme migration", "id": "GO:0090131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090131", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "actin-myosin filament sliding", "id": "GO:0033275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033275", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "P68033", "url": "https://www.uniprot.org/uniprotkb/P68033" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68033-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Thr105", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 105, "start_aa": "Thr", "end_pos": 105, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr105", "evidence": [ { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" }, { "id": "P68033", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P68033" }, { "id": "36288343", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36288343" }, { "id": "37507081", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37507081" }, { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "P68033", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P68033" } ] } ] }, { "uniprot_canonical_ac": "P68033-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Ser201", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": 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"uniprot_canonical_ac": "P68033-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Pro132", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NVP->NVS).", "chr_id": "2", "chr_pos": "113880830", "evidence": [ { "id": "rs3388573892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388573892" } ] } ] } ], "record_id": "P68033-1" }, { "uniprot_canonical_ac": "Q07456-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprotkb/Q07456" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 349, "chemical_mass": 39029.0, "gene_names": "Ambp;ASPI;Ambp;HI-30;Intin4;Itil;UTI", "protein_name": "Protein AMBP", "disease": [ { "disease_id": "DOID:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080652", "evidence": [ { "id": "0080652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID: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, 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"GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprotkb/Q07456" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprotkb/Q07456" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprotkb/Q07456" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprotkb/Q07456" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51299045" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Thr194", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21095288", "evidence": [ { "id": "rs245112921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245112921" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gly215", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21095351", "evidence": [ { "id": "rs3389273948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389273948" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Arg216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21095354", "evidence": [ { "id": "rs259465386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259465386" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Gly264", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21101272", "evidence": [ { "id": "rs29594808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29594808" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Gln29", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "20978650", "evidence": [ { "id": "rs259613693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259613693" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21126051", "evidence": [ { "id": "rs3389282763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282763" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "305", "end_pos": "305", "site_lbl": "Gly305", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21126054", "evidence": [ { "id": "rs3389267501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267501" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ser309", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21126066", "evidence": [ { "id": "rs3389202017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202017" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Glu314", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21163638", "evidence": [ { "id": "rs29601630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29601630" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Gly31", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "20978655", "evidence": [ { "id": "rs3389271285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389271285" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "320", "end_pos": "320", "site_lbl": "His320", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21163657", "evidence": [ { "id": "rs6226055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6226055" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Lys324", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21163669", "evidence": [ { "id": "rs29601633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29601633" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asp32", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "20978659", "evidence": [ { "id": "rs3389267452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267452" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Tyr34", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "20978664", "evidence": [ { "id": "rs226310314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226310314" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Ser352", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21179590", "evidence": [ { "id": "rs3389267504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267504" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ala363", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21179621", "evidence": [ { "id": "rs3389286885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286885" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Thr387", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184097", "evidence": [ { "id": "rs3389286855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286855" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Glu389", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184104", "evidence": [ { "id": "rs3389271608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389271608" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Gln390", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184107", "evidence": [ { "id": "rs3389282768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282768" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Leu399", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184132", "evidence": [ { "id": "rs3389273973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389273973" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Gly409", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184163", "evidence": [ { "id": "rs3389264044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389264044" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ser410", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21184166", "evidence": [ { "id": "rs3389270181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389270181" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Met462", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21187090", "evidence": [ { "id": "rs3389256407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389256407" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Arg469", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21187110", "evidence": [ { "id": "rs29603856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29603856" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Arg475", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21189203", "evidence": [ { "id": "rs3389202067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202067" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21189222", "evidence": [ { "id": "rs3403957474", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403957474" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Val49", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21000713", "evidence": [ { "id": "rs3389256428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389256428" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Val500", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21189277", "evidence": [ { "id": "rs3389269510", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269510" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Pro524", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21197333", "evidence": [ { "id": "rs3389239586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389239586" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gln52", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21000723", "evidence": [ { "id": "rs3404128438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404128438" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "541", "end_pos": "541", "site_lbl": "Arg541", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21207404", "evidence": [ { "id": "rs47070973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47070973" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Lys545", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21207416", "evidence": [ { "id": "rs3389239606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389239606" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "574", "end_pos": "574", "site_lbl": "His574", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21207504", "evidence": [ { "id": "rs3389202050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389202050" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Met65", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21000760", "evidence": [ { "id": "rs29597446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29597446" } ] } ] }, { "uniprot_canonical_ac": "O35298-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Leu76", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "13", "chr_pos": "21024271", "evidence": [ { "id": "rs3389270225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389270225" } ] } ] }, { 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"description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q64133", "url": "https://www.uniprot.org/uniprotkb/Q64133" } ] } ] } ], "record_id": "Q64133-1" }, { "uniprot_canonical_ac": "Q64438-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16593.0, "gene_names": "Ang2;Ang2;Angrp;Raa3;Rnase5b", "protein_name": "Angiogenin-2", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], 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reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "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": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "renal absorption", "id": "GO:0070293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070293", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": "https://www.uniprot.org/uniprotkb/Q64438" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q64438", "url": 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}, { "uniprot_canonical_ac": "Q6P8H8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6P8H8", "url": "https://www.uniprot.org/uniprotkb/Q6P8H8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 526, "chemical_mass": 59535.0, "gene_names": "Alg8;Alg8;Gm1089", "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "disease": [ { "disease_id": "DOID:0050570", "name": "congenital disorder of glycosylation type I", "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050570", "evidence": [ { "id": "0050570", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050570" } ], "weight": 0.0 }, { "disease_id": "DOID:0060976", "name": "polycystic liver disease 3", "description": "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14.", "url": "https://disease-ontology.org/term/DOID:0060976", "evidence": [ { "id": "0060976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060976" } ], "weight": 0.0 }, { "disease_id": "DOID:0080560", "name": "congenital disorder of glycosylation Ih", "description": "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding 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overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to testosterone stimulus", "id": "GO:0071394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071394", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "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": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "daunorubicin metabolic process", "id": "GO:0044597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044597", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "doxorubicin metabolic process", "id": "GO:0044598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044598", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "progesterone metabolic process", "id": "GO:0042448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042448", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "parturition", "id": "GO:0007567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007567", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cellular response to gonadotropin-releasing hormone", "id": "GO:0097211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097211", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "regulation of steroid biosynthetic process", "id": "GO:0050810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050810", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "progesterone catabolic process", "id": "GO:0006709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006709", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "Delta4-3-oxosteroid 5beta-reductase activity", "id": "GO:0047787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047787", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "id": "GO:0016655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016655", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "geranylgeranyl reductase activity", "id": "GO:0045550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045550", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "androsterone dehydrogenase [NAD(P)+] activity", "id": "GO:0047023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047023", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "chlordecone reductase activity", "id": "GO:0047743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047743", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "bile acid binding", "id": "GO:0032052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032052", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "prostaglandin H2 endoperoxidase reductase activity", "id": "GO:0036130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036130", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "prostaglandin D2 11-ketoreductase activity", "id": "GO:0036131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036131", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "ketoreductase activity", "id": "GO:0045703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045703", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase [NAD(P)+] activity", "id": "GO:0047006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047006", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity", "id": "GO:0047020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047020", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "ketosteroid monooxygenase activity", "id": "GO:0047086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": "https://www.uniprot.org/uniprotkb/Q8K023" } ], "pmid": "" }, { "name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity", "id": "GO:0047115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047115", "evidence": [ { "database": "UniProtKB", "id": "Q8K023", "url": 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"description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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"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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 191, "chemical_mass": 21910.0, "gene_names": "Ankrd22;5430429D21Rik;Ankrd22;D19Ertd675e", "protein_name": "Ankyrin repeat domain-containing protein 22", "disease": [], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J5", "url": "https://www.uniprot.org/uniprotkb/Q9D3J5" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J5", "url": "https://www.uniprot.org/uniprotkb/Q9D3J5" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q9D3J5", "url": "https://www.uniprot.org/uniprotkb/Q9D3J5" } ], 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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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4404", "name": "occupational dermatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4404", "evidence": [ { "id": "4404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ], "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:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. 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"name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70126", "url": "https://www.uniprot.org/uniprotkb/O70126" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O70126", "url": "https://www.uniprot.org/uniprotkb/O70126" } ], "pmid": "" }, { "name": "spindle midzone", "id": "GO:0051233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051233", "evidence": [ { "database": "UniProtKB", "id": "O70126", "url": "https://www.uniprot.org/uniprotkb/O70126" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "O70126", "url": "https://www.uniprot.org/uniprotkb/O70126" } ], "pmid": "" }, { "name": "chromosome, centromeric region", "id": "GO:0000775", "url": 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cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:1441", "evidence": [ { "id": "1441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1441" } ], "weight": 0.0 }, { "disease_id": "DOID:1540", "name": "parathyroid carcinoma", "description": "An endocrine gland cancer located_in the parathyroid glands located in the neck.", "url": "https://disease-ontology.org/term/DOID:1540", "evidence": [ { "id": "1540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1540" } ], "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:1781", "name": "thyroid cancer", "description": "An 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4404", "name": "occupational dermatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4404", "evidence": [ { "id": "4404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ], "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:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, 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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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID: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:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4404", "name": "occupational dermatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4404", "evidence": [ { "id": "4404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ], "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:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "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: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 }, { "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: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:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" }, { "name": "arylamine N-acetyltransferase activity", "id": "GO:0004060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004060", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" }, { "name": "N-hydroxyarylamine O-acetyltransferase activity", "id": "GO:0046990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046990", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" } ], "biological_process": [ { "name": "L-amino acid transport", "id": "GO:0015807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015807", "evidence": [ { "database": "UniProtKB", "id": "P50296", "url": "https://www.uniprot.org/uniprotkb/P50296" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P50296-1" }, { "uniprot_canonical_ac": "P61208-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 192, "chemical_mass": 21487.0, "gene_names": "Arl4c;A630084M22Rik;Arl4c;Arl7;LAK", "protein_name": "ADP-ribosylation factor-like protein 4C", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "P61208", "url": "https://www.uniprot.org/uniprotkb/P61208" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P61208-1" }, { "uniprot_canonical_ac": "P41133-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 119, "chemical_mass": 13089.0, "gene_names": "Id3;Hlh462;Id-3;Id3;Idb3;bHLHb25", "protein_name": "DNA-binding protein inhibitor ID-3", "disease": [ { "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "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": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" } ], "molecular_function": [ { "name": "leptomycin B binding", "id": "GO:1901707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901707", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P41133", "url": "https://www.uniprot.org/uniprotkb/P41133" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P41133-1" }, { "uniprot_canonical_ac": "Q8CGV9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1081, "chemical_mass": 118626.0, "gene_names": "Tshz3;A630038G13Rik;Kiaa1474;Tsh3;Tshz3;Zfp537;Znf537;mKIAA1474;teashirt3", "protein_name": "Teashirt homolog 3", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 } ], "biological_process": [ { "name": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "sensory perception of touch", "id": "GO:0050975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050975", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "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": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "musculoskeletal movement", "id": "GO:0050881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050881", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "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": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "ureter smooth muscle cell differentiation", "id": 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"DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "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": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprotkb/Q8CGV9" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": 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"description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070094", "evidence": [ { "id": "0070094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070094" } ], "weight": 0.0 }, { "disease_id": "DOID:0070095", "name": "oculocutaneous albinism type IB", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070095", "evidence": [ { "id": "0070095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070095" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": "https://www.uniprot.org/uniprotkb/P11344" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "P11344", "url": 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080160", "name": "Cytomegalovirus retinitis", "description": "A retinitis that has_material_basis_in Cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:0080160", "evidence": [ { "id": "0080160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080160" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080603", "name": "ankylosing spondylitis 1", "description": "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.", "url": "https://disease-ontology.org/term/DOID:0080603", "evidence": [ { "id": "0080603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080603" } ], "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:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.", "url": "https://disease-ontology.org/term/DOID:0080820", "evidence": [ { "id": "0080820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ], "weight": 0.0 }, { "disease_id": "DOID:0111079", "name": "birdshot chorioretinopathy", "description": "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.", "url": "https://disease-ontology.org/term/DOID:0111079", "evidence": [ { "id": "0111079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111079" } ], "weight": 0.0 }, { "disease_id": "DOID:0111286", "name": "psoriasis 1", "description": "A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33.", "url": "https://disease-ontology.org/term/DOID:0111286", "evidence": [ { "id": "0111286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111286" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:1123", "name": "spondyloarthropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:1123", "evidence": [ { "id": "1123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.", "url": "https://disease-ontology.org/term/DOID:11563", "evidence": [ { "id": "11563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "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:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1761", "name": "Melkersson-Rosenthal syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:1761", "evidence": [ { "id": "1761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1761" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID:2703", "name": "synovitis", "description": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.", "url": "https://disease-ontology.org/term/DOID:2703", "evidence": [ { "id": "2703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2703" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "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: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: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:3611", "name": "acute retinal necrosis syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:3611", "evidence": [ { "id": "3611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3611" } ], "weight": 0.0 }, { "disease_id": "DOID:3875", "name": "thrombophlebitis", "description": "A phlebitis that results from a blood clot in the vessel.", "url": "https://disease-ontology.org/term/DOID:3875", "evidence": [ { "id": "3875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3875" } ], "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:419", "name": "scleroderma", "description": "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.", "url": "https://disease-ontology.org/term/DOID:419", "evidence": [ { "id": "419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:419" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:525", "name": "central nervous system vasculitis", "description": "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.", "url": "https://disease-ontology.org/term/DOID:525", "evidence": [ { "id": "525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:525" } ], "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: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:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "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: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: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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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": 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symptom sinus discharge and results in formation of nodules.", "url": "https://disease-ontology.org/term/DOID:13078", "evidence": [ { "id": "13078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13078" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID: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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "mastication", "id": "GO:0071626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071626", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "cerebellar cortex morphogenesis", "id": "GO:0021696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021696", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "norepinephrine secretion", "id": "GO:0048243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048243", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "dopamine catabolic process", "id": "GO:0042420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042420", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "O88587", "url": "https://www.uniprot.org/uniprotkb/O88587" } ], "pmid": "" }, { "name": "response to 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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"id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" }, { "name": "protein modification by small protein conjugation", "id": "GO:0032446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032446", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "Atg12 transferase activity", "id": "GO:0019777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019777", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" }, { "name": "Atg12 conjugating enzyme activity", "id": "GO:0061651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061651", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R1P4-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Cys165", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Instead of the formation of an intermediate complex with a thiol ester bond between ATG10 (E2-like enzyme) and ATG12 (substrate), a stable complex with an O-ester bond is formed. Does not affect ATG12 conjugation to ATG3.", "evidence": [ { "database": "UniProtKB", "id": "Q8R1P4", "url": "https://www.uniprot.org/uniprotkb/Q8R1P4" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" }, { "database": "PubMed", "id": "12890687", "url": "https://glygen.org/publication/PubMed/12890687" }, { "database": "PubMed", "id": "12482611", "url": "https://glygen.org/publication/PubMed/12482611" } ] } ] } ], "record_id": "Q8R1P4-1" }, { "uniprot_canonical_ac": "Q9DBR3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBR3", "url": "https://www.uniprot.org/uniprotkb/Q9DBR3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 673, "chemical_mass": 75364.0, "gene_names": "Armc8;1200015K23Rik;Armc8;Gid5;HSPC056", "protein_name": "Armadillo repeat-containing protein 8", "disease": [], "cellular_component": [ { "name": 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"id": "Q9DBR3", "url": "https://www.uniprot.org/uniprotkb/Q9DBR3" } ] } ] }, { "uniprot_canonical_ac": "Q9DBR3-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Ser512", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DBR3", "url": "https://www.uniprot.org/uniprotkb/Q9DBR3" } ] } ] } ], "record_id": "Q9DBR3-1" }, { "uniprot_canonical_ac": "Q8R0S1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 413, "chemical_mass": 44608.0, "gene_names": "Atf7", "protein_name": "Cyclic AMP-dependent transcription factor ATF-7", "disease": [ { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or 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}, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "p38MAPK cascade", "id": "GO:0038066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038066", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "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": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "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": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "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": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "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": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035497", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "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": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q8R0S1", "url": "https://www.uniprot.org/uniprotkb/Q8R0S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8R0S1-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Thr138", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 138, "start_aa": "Thr", "end_pos": 138, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr138", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q8R0S1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8R0S1" }, { "id": "Q8R0S1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8R0S1" } ] } ] }, { "uniprot_canonical_ac": "Q8R0S1-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Thr316", "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": 316, "start_aa": "Thr", "end_pos": 316, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr316", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "15", "chr_pos": "102449354", "evidence": [ { "id": "rs3413014953", "database": "dbSNP", "url": 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Rescues MAP1LC3B lipidation when transfected in cell lacking ATG3.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Rescues MAP1LC3B lipidation when transfected in cell lacking ATG3.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] }, { "sequence_org": "K", "sequence_mut": "W", "comment": "Rescues MAP1LC3B lipidation when transfected in cell lacking ATG3.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Val15", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "K", "comment": "Destroys the amphipathic character and eliminates lipidation activity. 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Does not affect the ATG3:GABARAPL1 intermediate.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Lys243", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes ATG12 conjugation, leading to an expansion in mitochondrial mass and fragmented mitochondrial morphology. Does not affect PE-conjugation to ATG8-like proteins. Reduces autophagosome maturation. Affects multivesicular bodies (MVBs) distribution and morphology. Exhibits defects in late endosome to lysosome trafficking. Does not interacts with PDCD6IP.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "25686249", "url": "https://glygen.org/publication/PubMed/25686249" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Cys264", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes E2-like activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Lys271", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ATG12 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Lys295", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ATG12 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Val4", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "K", "comment": "Reduces the amount of hydrophobic surface area available to partition into a bilayer. Does not affect the ATG3:GABARAPL1 intermediate. Rescues MAP1LC3B lipidation when transfected in cell lacking ATG3.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ile5", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Reduces the amount of hydrophobic surface area available to partition into a bilayer. Does not affect the ATG3:GABARAPL1 intermediate.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Lys71", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ATG12 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Lys83", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not affect ATG12 conjugation.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "20723759", "url": "https://glygen.org/publication/PubMed/20723759" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Val8", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Destroys the amphipathic character and eliminates lipidation activity. Does not affect the ATG3:GABARAPL1 intermediate.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] }, { "uniprot_canonical_ac": "Q9CPX6-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Lys9", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "D", "comment": "Eliminates lipidation. Does not affect the ATG3:GABARAPL1 intermediate.", "evidence": [ { "database": "UniProtKB", "id": "Q9CPX6", "url": "https://www.uniprot.org/uniprotkb/Q9CPX6" }, { "database": "PubMed", "id": "24747438", "url": "https://glygen.org/publication/PubMed/24747438" } ] } ] } ], "record_id": "Q9CPX6-1" }, { "uniprot_canonical_ac": "Q9CQ31-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 323, "chemical_mass": 35331.0, "gene_names": "Asb11;1110067L12Rik;1600009D24Rik;Asb11", "protein_name": "Ankyrin repeat and SOCS box protein 11", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" }, { "name": "Cul5-RING ubiquitin ligase complex", "id": "GO:0031466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031466", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" } ], "biological_process": [ { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" }, { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin-like ligase-substrate adaptor activity", "id": "GO:1990756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990756", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ31", "url": "https://www.uniprot.org/uniprotkb/Q9CQ31" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CQ31-1" }, { "uniprot_canonical_ac": "Q9D1A4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D1A4", "url": "https://www.uniprot.org/uniprotkb/Q9D1A4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 329, "chemical_mass": 36282.0, "gene_names": "Asb5;1110018D09Rik;Asb5", "protein_name": "Ankyrin repeat and SOCS box protein 5", "disease": [], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9D1A4", "url": "https://www.uniprot.org/uniprotkb/Q9D1A4" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q9D1A4", "url": "https://www.uniprot.org/uniprotkb/Q9D1A4" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q9D1A4", "url": "https://www.uniprot.org/uniprotkb/Q9D1A4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D1A4-1" }, { "uniprot_canonical_ac": "Q9D8Z1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 356, "chemical_mass": 41280.0, "gene_names": "Ascc1;1810015P09Rik;ASC1p50;Ascc1;CGI-18", "protein_name": "Activating signal cointegrator 1 complex subunit 1", "disease": [ { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" }, { "name": "DNA repair complex", "id": "GO:1990391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990391", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" }, { "name": "DNA alkylation repair", "id": "GO:0006307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006307", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9D8Z1", "url": "https://www.uniprot.org/uniprotkb/Q9D8Z1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D8Z1-1" }, { "uniprot_canonical_ac": "Q9DCZ9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 258, "chemical_mass": 29045.0, "gene_names": "Aph1c;Aph1c", "protein_name": "Putative gamma-secretase subunit APH-1C", "disease": [ { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "gamma-secretase complex", "id": "GO:0070765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070765", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "Notch receptor processing", "id": "GO:0007220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007220", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "Q9DCZ9", "url": "https://www.uniprot.org/uniprotkb/Q9DCZ9" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": 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"uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Arg150", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32023651", "evidence": [ { "id": "rs3389539025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389539025" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Phe179", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32023563", "evidence": [ { "id": "rs229806889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229806889" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Ile209", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32022407", "evidence": [ { "id": "rs3389482320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389482320" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Pro216", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32022386", "evidence": [ { "id": "rs3389443857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389443857" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Phe220", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32022375", "evidence": [ { "id": "rs244067911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244067911" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Ser244", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32022303", "evidence": [ { "id": "rs3389544175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544175" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Met257", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32020931", "evidence": [ { "id": "rs3389544166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544166" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Arg378", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "31996365", "evidence": [ { "id": "rs3389535627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535627" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ala402", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "31994139", "evidence": [ { "id": "rs3389527019", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Phe49", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32032021", "evidence": [ { "id": "rs3409359709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409359709" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Val505", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "31989866", "evidence": [ { "id": "rs47198368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47198368" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32032019", "evidence": [ { "id": "rs3412862337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412862337" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "32032020", "evidence": [ { "id": "rs3408993302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408993302" } ] } ] }, { "uniprot_canonical_ac": "Q9JHE3-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Val543", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "19", "chr_pos": "31986042", "evidence": [ { "id": 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"name": "Keshan disease", "description": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.", "url": "https://disease-ontology.org/term/DOID:11836", "evidence": [ { "id": "11836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "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: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:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "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: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: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid hydroxylation", "id": "GO:0002933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002933", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "response to Aroclor 1254", "id": "GO:1904010", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P00184", "url": "https://www.uniprot.org/uniprotkb/P00184" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": 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"url": "https://www.alliancegenome.org/disease/DOID:0050458" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "granulocyte macrophage colony-stimulating factor receptor binding", "id": "GO:0005129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005129", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" } ], "biological_process": [ { "name": "neutrophil differentiation", "id": "GO:0030223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030223", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" }, { "name": "positive regulation of interleukin-23 production", "id": "GO:0032747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032747", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P01587", "url": "https://www.uniprot.org/uniprotkb/P01587" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": 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"https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning 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"" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "membrane lipid catabolic process", "id": "GO:0046466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046466", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "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": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "retinal blood vessel morphogenesis", "id": "GO:0061304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061304", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "DNA modification", "id": "GO:0006304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006304", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "benzene-containing compound metabolic process", "id": "GO:0042537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042537", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" } ], "molecular_function": [ { "name": "estrogen 16-alpha-hydroxylase activity", "id": "GO:0101020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101020", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "steroid hydroxylase activity", "id": "GO:0008395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008395", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": 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acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q64429", "url": "https://www.uniprot.org/uniprotkb/Q64429" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q64429-1" }, { "uniprot_canonical_ac": "Q64445-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q64445", "url": "https://www.uniprot.org/uniprotkb/Q64445" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 69, "chemical_mass": 7648.0, "gene_names": "Cox8a;COX8L;Cox8a;Cox8l;Cox8", "protein_name": "Cytochrome c oxidase subunit 8A, mitochondrial", "disease": [ { "disease_id": "DOID:0070500", "name": "mitochondrial complex IV deficiency nuclear type 15", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1.", "url": "https://disease-ontology.org/term/DOID:0070500", "evidence": [ { "id": "0070500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070500" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64445", "url": 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] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Asn191", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9848394", "evidence": [ { "id": "rs3389503192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389503192" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Met196", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9848409", "evidence": [ { "id": "rs3389498040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498040" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Ile21", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9840242", "evidence": [ { "id": "rs3389398606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389398606" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Gln235", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9848526", "evidence": [ { "id": "rs3389434469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434469" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Gln242", "weight": 0.0, "snv": [ { "sequence_org": "Q", 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"site_lbl": "Asp4", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9720924", "evidence": [ { "id": "rs3389498095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498095" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Pro519", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9858774", "evidence": [ { "id": "rs3389498016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389498016" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Glu555", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9858882", "evidence": [ { "id": "rs3389487188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389487188" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Gly584", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "18", "chr_pos": "9858968", "evidence": [ { "id": "rs3389434495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389434495" } ] } ] }, { "uniprot_canonical_ac": "Q8K4Q8-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Leu592", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: 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Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the 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characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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. 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"https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "tear secretion", "id": "GO:0070075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070075", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "regulation of activin receptor signaling pathway", "id": "GO:0032925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032925", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": 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"https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "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": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "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": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "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": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "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": "O35565", "url": "https://www.uniprot.org/uniprotkb/O35565" } ], "pmid": "" }, { "name": "bud elongation involved in lung branching", "id": "GO:0060449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060449", "evidence": [ { 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"url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of hepatocyte proliferation", "id": "GO:2000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000347", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "positive regulation of plasminogen activation", "id": "GO:0010756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010756", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": 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"UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:2000611", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "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": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "basement membrane disassembly", "id": "GO:0034769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034769", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "O35453", "url": "https://www.uniprot.org/uniprotkb/O35453" } ], "pmid": "" }, { "name": "serine-type peptidase 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080333", "name": "aortic valve disease 1", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0080333", "evidence": [ { "id": "0080333", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080333" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080743", "name": "transverse myelitis", "description": "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below.", "url": "https://disease-ontology.org/term/DOID:0080743", "evidence": [ { "id": "0080743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080743" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "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:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:1123", "name": "spondyloarthropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:1123", "evidence": [ { "id": "1123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12835", "name": "quadriplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:12835", "evidence": [ { "id": "12835", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12835" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12895", "name": "keratoconjunctivitis sicca", "description": "", "url": "https://disease-ontology.org/term/DOID:12895", "evidence": [ { "id": "12895", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12895" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13593", "name": "eclampsia", "description": "A pre-eclampsia characterized by the presence of seizures.", "url": "https://disease-ontology.org/term/DOID:13593", "evidence": [ { "id": "13593", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13593" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "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: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:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.", "url": "https://disease-ontology.org/term/DOID:1687", "evidence": [ { "id": "1687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads.", "url": "https://disease-ontology.org/term/DOID:1924", "evidence": [ { "id": "1924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ], "weight": 0.0 }, { "disease_id": "DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1993", "evidence": [ { "id": "1993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "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:2862", "name": "glucosephosphate dehydrogenase deficiency", "description": "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).", "url": "https://disease-ontology.org/term/DOID:2862", "evidence": [ { "id": "2862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2862" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3087", "name": "gingivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:3087", "evidence": [ { "id": "3087", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3087" } ], "weight": 0.0 }, { "disease_id": "DOID:319", "name": "spinal cord disease", "description": "", "url": "https://disease-ontology.org/term/DOID:319", "evidence": [ { "id": "319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:319" } ], "weight": 0.0 }, { "disease_id": "DOID:331", "name": "central nervous system disease", "description": "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.", "url": "https://disease-ontology.org/term/DOID:331", "evidence": [ { "id": "331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:331" } ], "weight": 0.0 }, { "disease_id": "DOID:3388", "name": "periodontal disease", "description": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth.", "url": "https://disease-ontology.org/term/DOID:3388", "evidence": [ { "id": "3388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3388" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4251", "name": "conjunctival disease", "description": "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.", "url": "https://disease-ontology.org/term/DOID:4251", "evidence": [ { "id": "4251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4251" } ], "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:4677", "name": "keratitis", "description": "A corneal disease that is characterized by inflammation of the cornea.", "url": "https://disease-ontology.org/term/DOID:4677", "evidence": [ { "id": "4677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4677" } ], "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: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: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:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "weight": 0.0 }, { "disease_id": "DOID:5463", "name": "cochlear disease", "description": "", "url": "https://disease-ontology.org/term/DOID:5463", "evidence": [ { "id": "5463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5463" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:8463", "name": "corneal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:8463", "evidence": [ { "id": "8463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ], "weight": 0.0 }, { "disease_id": "DOID:8483", "name": "retinal artery occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:8483", "evidence": [ { "id": "8483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8483" } ], "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:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 }, { "disease_id": "DOID:8632", "name": "Kaposi's sarcoma", "description": "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8).", "url": "https://disease-ontology.org/term/DOID:8632", "evidence": [ { "id": "8632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8632" } ], "weight": 0.0 }, { "disease_id": "DOID:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9402", "name": "epididymitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9402", "evidence": [ { "id": "9402", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9402" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. 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retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a 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"url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "hepatic immune response", "id": "GO:0002384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002384", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "negative regulation of muscle organ development", "id": "GO:0048635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048635", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "glucagon secretion", "id": "GO:0070091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070091", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "hepatocyte proliferation", "id": "GO:0072574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072574", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904996", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1-mediated signaling pathway", "id": "GO:2000660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000660", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "negative regulation of primary miRNA processing", "id": "GO:2000635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000635", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "germinal center B cell differentiation", "id": "GO:0002314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002314", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "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": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": "https://www.uniprot.org/uniprotkb/P08505" } ], "pmid": "" }, { "name": "positive regulation of transmission of nerve impulse", "id": "GO:0051971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051971", "evidence": [ { "database": "UniProtKB", "id": "P08505", "url": 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"https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3594", "name": "choriocarcinoma", "description": "A placenta cancer that has_material_basis_in trophoblastic cells.", "url": "https://disease-ontology.org/term/DOID:3594", "evidence": [ { "id": "3594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3594" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized 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"database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "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": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "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": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "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": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "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": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of developmental growth", "id": "GO:0048639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048639", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation 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"name": "male sex determination", "id": "GO:0030238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030238", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex disassembly", "id": "GO:0043243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043243", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "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": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "positive regulation of respiratory burst", "id": "GO:0060267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060267", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": "https://www.uniprot.org/uniprotkb/P15208" } ], "pmid": "" }, { "name": "dendritic spine maintenance", "id": "GO:0097062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097062", "evidence": [ { "database": "UniProtKB", "id": "P15208", "url": 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"uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "295", "end_pos": "295", "site_lbl": "His295", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "25453635", "evidence": [ { "id": "rs4231387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4231387" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "25453628", "evidence": [ { "id": "rs3389391294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389391294" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Gly69", "weight": 0.0, 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Does not affect homodimerization; when associated with S-157.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5C2", "url": "https://www.uniprot.org/uniprotkb/Q6S5C2" }, { "database": "PubMed", "id": "21173149", "url": "https://glygen.org/publication/PubMed/21173149" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Trp98", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "25454704", "evidence": [ { "id": "rs3389459476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389459476" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Cys142", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5C2", "url": "https://www.uniprot.org/uniprotkb/Q6S5C2" }, { "database": "PubMed", "id": "21173149", "url": "https://glygen.org/publication/PubMed/21173149" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Cys157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes homodimerization; when associated with S-84 S-245.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5C2", "url": "https://www.uniprot.org/uniprotkb/Q6S5C2" }, { "database": "PubMed", "id": "21173149", "url": "https://glygen.org/publication/PubMed/21173149" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Cys169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Does not affect homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "Q6S5C2", "url": "https://www.uniprot.org/uniprotkb/Q6S5C2" }, { "database": "PubMed", "id": "21173149", "url": "https://glygen.org/publication/PubMed/21173149" } ] } ] }, { "uniprot_canonical_ac": "Q6S5C2-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Cys245", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Abolishes homodimerization. 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"url": "https://disease-ontology.org/term/DOID:0060419", "evidence": [ { "id": "0060419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060419" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9R092", "url": "https://www.uniprot.org/uniprotkb/Q9R092" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9R092", "url": "https://www.uniprot.org/uniprotkb/Q9R092" } ], "pmid": "" } ], "molecular_function": [ { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q9R092", "url": "https://www.uniprot.org/uniprotkb/Q9R092" } ], "pmid": "" }, { "name": 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"start_pos": "161", "end_pos": "161", "site_lbl": "Asn161", "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": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "Q9R092", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R092#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R092-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Ser208", "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": 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