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"sites": [], "record_id": "Q5U4F3-1" }, { "uniprot_canonical_ac": "Q63484-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63484", "url": "https://www.uniprot.org/uniprotkb/Q63484" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 479, "chemical_mass": 55796.0, "gene_names": "Akt3", "protein_name": "RAC-gamma serine/threonine-protein kinase", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs 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"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": 7, "start_aa": "Asn", "end_pos": 7, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn7", "evidence": [ { "id": "Q62758", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q62758#ptm_processing" } ] } ] } ], "record_id": "Q62758-1" }, { "uniprot_canonical_ac": "Q5RKI8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5RKI8", "url": "https://www.uniprot.org/uniprotkb/Q5RKI8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 714, "chemical_mass": 77770.0, "gene_names": "Abcb8;Abcb8;MITOSUR;Mitosur", "protein_name": "Mitochondrial potassium channel 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"uniprot_canonical_ac": "Q64610-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Asp311", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolishes lysophospholipase D activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64610", "url": "https://www.uniprot.org/uniprotkb/Q64610" }, { "database": "PubMed", "id": "12633853", "url": "https://glygen.org/publication/PubMed/12633853" } ] } ] }, { "uniprot_canonical_ac": "Q64610-1", "start_pos": "315", "end_pos": "315", "site_lbl": "His315", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "20% of wild-type lysophospholipase D activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64610", "url": "https://www.uniprot.org/uniprotkb/Q64610" }, { "database": "PubMed", "id": "12633853", "url": "https://glygen.org/publication/PubMed/12633853" } ] } ] }, { "uniprot_canonical_ac": "Q64610-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Lys430", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired secretion. No effect on lysophospholipase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q64610", "url": "https://www.uniprot.org/uniprotkb/Q64610" }, { "database": "PubMed", "id": "21240271", "url": "https://glygen.org/publication/PubMed/21240271" } ] } ] } ], "record_id": "Q64610-1" }, { "uniprot_canonical_ac": "Q5XHY8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5XHY8", "url": "https://www.uniprot.org/uniprotkb/Q5XHY8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 419, "chemical_mass": 47054.0, "gene_names": "Fam217a;Fam217a;LOC498735", "protein_name": "Protein FAM217A", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5XHY8-1" }, { "uniprot_canonical_ac": "Q9JK15-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": 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"UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "inositol 1,3,4,5 tetrakisphosphate binding", "id": "GO:0043533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043533", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "1-phosphatidylinositol binding", "id": "GO:0005545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005545", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "mitochondrial envelope", "id": "GO:0005740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005740", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JK15-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Arg151", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Almost complete loss of InsP4 binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JK15", "url": "https://www.uniprot.org/uniprotkb/Q9JK15" }, { "database": "PubMed", "id": "12018390", "url": "https://glygen.org/publication/PubMed/12018390" } ] } ] }, { "uniprot_canonical_ac": "Q9JK15-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Arg275", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", 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circadian rhythm", "id": "GO:0042753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042753", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "regulation of cellular senescence", "id": "GO:2000772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000772", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "regulation of hair cycle", "id": "GO:0042634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042634", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "maternal process 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"UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor binding", "id": "GO:0017162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017162", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW1", "url": "https://www.uniprot.org/uniprotkb/Q9EPW1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": 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chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ], "weight": 0.0 }, { "disease_id": "DOID:0080611", "name": "anterior segment dysgenesis 6", "description": "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0080611", "evidence": [ { "id": "0080611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080611" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": 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"evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "cellular response to progesterone stimulus", "id": "GO:0071393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071393", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "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": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q64678", "url": "https://www.uniprot.org/uniprotkb/Q64678" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": 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receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "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": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "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": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "cerebral cortex regionalization", "id": "GO:0021796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021796", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "cerebral cortex radial glia-guided migration", "id": "GO:0021801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021801", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "hematopoietic stem cell homeostasis", "id": "GO:0061484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061484", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900748", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070444", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "Rho-activating G protein-coupled receptor signaling pathway", "id": "GO:0160221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160221", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", 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protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "Q8K3V3", "url": "https://www.uniprot.org/uniprotkb/Q8K3V3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular 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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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4306", "name": "radiculopathy", "description": "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling.", "url": "https://disease-ontology.org/term/DOID:4306", "evidence": [ { "id": "4306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4306" } ], "weight": 0.0 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"https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": 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"name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" } ], "biological_process": [ { "name": "central nervous system morphogenesis", "id": "GO:0021551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021551", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "cardiac muscle tissue regeneration", "id": "GO:0061026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061026", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "establishment of planar polarity involved in nephron morphogenesis", "id": "GO:0072046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072046", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62956", "url": "https://www.uniprot.org/uniprotkb/Q62956" } ], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0047994", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "peroxisome fission", "id": "GO:0016559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016559", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "dicarboxylic acid catabolic process", "id": "GO:0043649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043649", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" }, { "name": "negative regulation of glycoprotein biosynthetic process", "id": "GO:0010561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010561", "evidence": [ { "database": "UniProtKB", "id": "Q8VHK0", "url": "https://www.uniprot.org/uniprotkb/Q8VHK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VHK0-1" }, { "uniprot_canonical_ac": "Q64581-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q64581", "url": "https://www.uniprot.org/uniprotkb/Q64581" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 497, "chemical_mass": 57307.0, "gene_names": "Cyp3a18;Cyp3a18", "protein_name": "Cytochrome P450 3A18", "disease": [], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q64581", "url": "https://www.uniprot.org/uniprotkb/Q64581" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q64581", "url": "https://www.uniprot.org/uniprotkb/Q64581" } ], "pmid": "" }, { "name": "testosterone 6-beta-hydroxylase activity", "id": "GO:0050649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050649", "evidence": [ { "database": "UniProtKB", "id": "Q64581", "url": "https://www.uniprot.org/uniprotkb/Q64581" } ], "pmid": "" }, { "name": "testosterone 16-alpha-hydroxylase activity", "id": "GO:0008390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008390", "evidence": [ { "database": "UniProtKB", "id": "Q64581", "url": "https://www.uniprot.org/uniprotkb/Q64581" } ], "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": [ 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{ "uniprot_canonical_ac": "Q8VII2-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Asn122", "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": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "Q8VII2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VII2#ptm_processing" } ] } ] } ], "record_id": "Q8VII2-1" }, { "uniprot_canonical_ac": "Q62799-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1339, "chemical_mass": 147546.0, "gene_names": "Erbb3;Erbb3;nuc-ErbB3", "protein_name": "Receptor tyrosine-protein kinase erbB-3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma 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"https://disease-ontology.org/term/DOID:0060560", "evidence": [ { "id": "0060560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060560" } ], "weight": 0.0 }, { "disease_id": "DOID:0080679", "name": "neuronal intestinal dysplasia type A", "description": "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine.", "url": "https://disease-ontology.org/term/DOID:0080679", "evidence": [ { "id": "0080679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080679" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "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:10376", "name": "amblyopia", "description": "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward.", "url": "https://disease-ontology.org/term/DOID:10376", "evidence": [ { "id": "10376", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10376" } ], "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: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:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:571" } ], "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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neuregulin receptor activity", "id": "GO:0038131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038131", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "neuregulin binding", "id": "GO:0038132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038132", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "protein tyrosine kinase activator activity", "id": "GO:0030296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030296", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "transmembrane receptor protein tyrosine kinase activity", "id": "GO:0004714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004714", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "ErbB-3 class receptor binding", "id": "GO:0043125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043125", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" } ], "biological_process": [ { "name": "cranial nerve development", "id": "GO:0021545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021545", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "ERBB signaling pathway", "id": "GO:0038127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038127", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "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": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "Schwann cell differentiation", "id": "GO:0014037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014037", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "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": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "negative regulation of secretion", "id": "GO:0051048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051048", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of membrane permeability", "id": "GO:1905710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905710", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle tissue development", "id": "GO:0055025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055025", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": "https://www.uniprot.org/uniprotkb/Q62799" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q62799", "url": 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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: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "NADPH oxidase complex", "id": "GO:0043020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043020", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "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": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "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": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "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": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of NAD(P)H oxidase activity", "id": "GO:0033864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033864", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "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": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "negative regulation of glomerular filtration by angiotensin", "id": "GO:0003106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003106", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "smooth muscle hypertrophy", "id": "GO:0014895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014895", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "cytochrome complex assembly", "id": "GO:0017004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017004", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 2 signaling pathway", "id": "GO:0034137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034137", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "positive regulation of defense response to bacterium", "id": "GO:1900426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900426", "evidence": [ { "database": "UniProtKB", "id": "Q62737", "url": "https://www.uniprot.org/uniprotkb/Q62737" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": 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"hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q63413", "url": "https://www.uniprot.org/uniprotkb/Q63413" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q63413", "url": "https://www.uniprot.org/uniprotkb/Q63413" } ], "pmid": "" } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q63413", "url": "https://www.uniprot.org/uniprotkb/Q63413" } ], "pmid": "" }, { "name": "mRNA export from nucleus", "id": "GO:0006406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006406", "evidence": [ { "database": "UniProtKB", "id": "Q63413", "url": "https://www.uniprot.org/uniprotkb/Q63413" } ], "pmid": "" }, { "name": "RNA splicing", "id": 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 235, "chemical_mass": 24529.0, "gene_names": "Bpifa2;Bpifa2e;Bpifa2;Psp", "protein_name": "BPI fold-containing family A member 2", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": 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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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:571" } ], "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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q63471", "url": "https://www.uniprot.org/uniprotkb/Q63471" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q63471-1" }, { "uniprot_canonical_ac": "Q63639-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 518, "chemical_mass": 56640.0, "gene_names": "Aldh1a2;Aldh1a2;Raldh-2;Raldh2", "protein_name": "Retinal dehydrogenase 2", "disease": [ { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "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: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": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "determination of bilateral symmetry", "id": "GO:0009855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009855", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "embryonic camera-type eye development", "id": "GO:0031076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031076", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "ureter maturation", "id": "GO:0035799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035799", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "9-cis-retinoic acid biosynthetic process", "id": "GO:0042904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042904", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q63639", "url": "https://www.uniprot.org/uniprotkb/Q63639" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": 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inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.", "url": "https://disease-ontology.org/term/DOID:0050434", "evidence": [ { "id": "0050434", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050434" } ], "weight": 0.0 }, { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { "disease_id": "DOID:0050793", "name": "short QT syndrome", "description": "A heart conduction disease that is characterized by 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"name": "EAST syndrome", "description": "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.", "url": "https://disease-ontology.org/term/DOID:0060484", "evidence": [ { "id": "0060484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060484" } ], "weight": 0.0 }, { "disease_id": "DOID:1029", "name": "familial periodic paralysis", "description": "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. 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"name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane repolarization during action potential", "id": "GO:0086011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086011", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "regulation of skeletal muscle contraction via regulation of action potential", "id": "GO:0014861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014861", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "magnesium ion transport", "id": "GO:0015693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015693", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "membrane repolarization during cardiac muscle cell action potential", "id": "GO:0086013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086013", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "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": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "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": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential involved in contraction", "id": "GO:0086002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086002", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "relaxation of skeletal muscle", "id": "GO:0090076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090076", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential", "id": "GO:0086001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086001", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" } ], "molecular_function": [ { "name": "voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization", "id": "GO:0086008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086008", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" }, { "name": "inward rectifier potassium channel activity", "id": "GO:0005242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005242", "evidence": [ { "database": "UniProtKB", "id": "Q64273", "url": "https://www.uniprot.org/uniprotkb/Q64273" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q64273-1" }, { "uniprot_canonical_ac": "Q642A7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q642A7", "url": "https://www.uniprot.org/uniprotkb/Q642A7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 608, "chemical_mass": 67187.0, "gene_names": "Fam151a;Fam151a", "protein_name": "Protein FAM151A", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q642A7", "url": "https://www.uniprot.org/uniprotkb/Q642A7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q642A7", "url": "https://www.uniprot.org/uniprotkb/Q642A7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q642A7-1" }, { "uniprot_canonical_ac": "Q64573-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 561, "chemical_mass": 62308.0, "gene_names": "Ces1f;Ces1f", "protein_name": "Liver carboxylesterase 1F", "disease": [], "biological_process": [ { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA catabolic process", "id": "GO:0036116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036116", "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "pmid": "" }, { "name": "short-chain fatty acid catabolic process", "id": "GO:0019626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019626", "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q64573", "url": "https://www.uniprot.org/uniprotkb/Q64573" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", 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"evidence": [ { "database": "UniProtKB", "id": "Q64602", "url": "https://www.uniprot.org/uniprotkb/Q64602" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 425, "chemical_mass": 47784.0, "gene_names": "Aadat;Aadat;Kat2", "protein_name": "Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial", "disease": [ { "disease_id": "DOID:0112163", "name": "spermatogenic failure 45", "description": "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0112163", "evidence": [ { "id": "0112163", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112163" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "kynurenine-glyoxylate transaminase activity", "id": "GO:0047315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047315", "evidence": [ { "database": "UniProtKB", "id": "Q64602", "url": "https://www.uniprot.org/uniprotkb/Q64602" } ], "pmid": "" }, { "name": "kynurenine-oxoglutarate transaminase activity", "id": "GO:0016212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016212", "evidence": [ { "database": "UniProtKB", "id": "Q64602", "url": "https://www.uniprot.org/uniprotkb/Q64602" } ], "pmid": "" }, { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q64602", "url": "https://www.uniprot.org/uniprotkb/Q64602" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q64602", "url": 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"" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q66HC3", "url": "https://www.uniprot.org/uniprotkb/Q66HC3" } ], "pmid": "" }, { "name": "Atg1/ULK1 kinase complex", "id": "GO:1990316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990316", "evidence": [ { "database": "UniProtKB", "id": "Q66HC3", "url": "https://www.uniprot.org/uniprotkb/Q66HC3" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q66HC3", "url": "https://www.uniprot.org/uniprotkb/Q66HC3" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q66HC3", "url": "https://www.uniprot.org/uniprotkb/Q66HC3" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor complex", "id": 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10116, "evidence": [ { "database": "UniProtKB", "id": "Q68FS2", "url": "https://www.uniprot.org/uniprotkb/Q68FS2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 406, "chemical_mass": 46290.0, "gene_names": "Cops4;Cops4;Csn4", "protein_name": "COP9 signalosome complex subunit 4", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q68FS2", "url": "https://www.uniprot.org/uniprotkb/Q68FS2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q68FS2", "url": "https://www.uniprot.org/uniprotkb/Q68FS2" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q68FS2", "url": 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"molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q68FU3", "url": "https://www.uniprot.org/uniprotkb/Q68FU3" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q68FU3", "url": "https://www.uniprot.org/uniprotkb/Q68FU3" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q68FU3", "url": "https://www.uniprot.org/uniprotkb/Q68FU3" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q68FU3", "url": 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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:3204", "name": "schwannomatosis", "description": "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors.", "url": "https://disease-ontology.org/term/DOID:3204", "evidence": [ { "id": "3204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3204" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen", "id": "GO:0016709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016709", "evidence": [ { "database": "UniProtKB", "id": "Q68FU7", "url": "https://www.uniprot.org/uniprotkb/Q68FU7" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q68FU7", "url": "https://www.uniprot.org/uniprotkb/Q68FU7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q68FU7", "url": "https://www.uniprot.org/uniprotkb/Q68FU7" } ], "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": "Q68FU7", "url": "https://www.uniprot.org/uniprotkb/Q68FU7" } ], "pmid": "" }, { 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 147, "chemical_mass": 16929.0, "gene_names": "Nudt2;Nudt2", "protein_name": "Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]", "disease": [], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "pmid": "" }, { "name": "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity", "id": "GO:0004081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004081", "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "pmid": "" } ], "biological_process": [ { "name": "ATP biosynthetic process", "id": "GO:0006754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006754", "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "pmid": "" }, { "name": "AMP biosynthetic process", "id": "GO:0006167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006167", "evidence": [ { "database": "UniProtKB", "id": "Q6PEC0", "url": "https://www.uniprot.org/uniprotkb/Q6PEC0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6PEC0-1" }, { "uniprot_canonical_ac": "Q6Q0N2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6Q0N2", "url": "https://www.uniprot.org/uniprotkb/Q6Q0N2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 176, "chemical_mass": 18593.0, "gene_names": "Fam89a;Fam89a;RGD1309879", "protein_name": "Protein FAM89A", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6Q0N2-1" }, { "uniprot_canonical_ac": "Q6QDP7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 521, "chemical_mass": 57379.0, "gene_names": "Creb3l2;Creb3l2;Ra69;SCIRR69", "protein_name": "Cyclic AMP-responsive element-binding protein 3-like protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "endoplasmic reticulum to Golgi vesicle-mediated transport", "id": "GO:0006888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006888", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "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": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035497", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6QDP7-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Thr205", "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": 205, "start_aa": "Thr", "end_pos": 205, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr205", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "Q6QDP7-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Asn505", "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": 505, "start_aa": "Asn", "end_pos": 505, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn505", "evidence": [ { "id": "Q6QDP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6QDP7-1", "start_pos": "518", "end_pos": "518", "site_lbl": "Asn518", "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": 518, "start_aa": "Asn", "end_pos": 518, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn518", "evidence": [ { "id": "Q6QDP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6QDP7-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ] } ] }, { "uniprot_canonical_ac": "Q6QDP7-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6QDP7", "url": "https://www.uniprot.org/uniprotkb/Q6QDP7" } ] } ] } ], "record_id": "Q6QDP7-1" }, { "uniprot_canonical_ac": "Q6SKG1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 580, "chemical_mass": 65713.0, "gene_names": "Acsm3;Acsm3;Sah;Sa", "protein_name": "Acyl-coenzyme A synthetase ACSM3, mitochondrial", "disease": [ { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "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: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: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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "fatty-acyl-CoA synthase activity", "id": "GO:0004321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004321", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "fatty acid ligase activity", "id": "GO:0015645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015645", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "propionate CoA-transferase activity", "id": "GO:0018729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018729", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "propionate-CoA ligase activity", "id": "GO:0050218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050218", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "2-methylbutanoate-CoA ligase activity", "id": "GO:0043759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043759", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "medium-chain fatty acid-CoA ligase activity", "id": "GO:0031956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031956", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" } ], "biological_process": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q6SKG1", "url": "https://www.uniprot.org/uniprotkb/Q6SKG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6SKG1-1" }, { "uniprot_canonical_ac": "Q6UPE1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 616, "chemical_mass": 68164.0, "gene_names": "Etfdh;Etfdh", "protein_name": "Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "quinone binding", "id": "GO:0048038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048038", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "electron-transferring-flavoprotein dehydrogenase activity", "id": "GO:0004174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004174", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "iron-sulfur cluster binding", "id": "GO:0051536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051536", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" }, { "name": "ubiquinone binding", "id": "GO:0048039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048039", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6UPE1-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Ser550", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6UPE1", "url": "https://www.uniprot.org/uniprotkb/Q6UPE1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q6UPE1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UPE1" } ] } ] } ], "record_id": "Q6UPE1-1" }, { "uniprot_canonical_ac": "Q71HP2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 539, "chemical_mass": 59718.0, "gene_names": "Gprasp3;Bhlhb9;Gprasp3;KKPROT;p60TRP", "protein_name": "G protein-coupled receptor associated sorting protein 3", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" } ], "biological_process": [ { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "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": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q71HP2", "url": "https://www.uniprot.org/uniprotkb/Q71HP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q71HP2-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "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": 226, "start_aa": "Thr", "end_pos": 226, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr226", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "Q71HP2-1" }, { "uniprot_canonical_ac": "Q75NT5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 701, "chemical_mass": 77799.0, "gene_names": "Ahrr;Ahrr", "protein_name": "Aryl hydrocarbon receptor repressor", "disease": [ { "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 } ], "biological_process": [ { "name": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "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": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "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": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "aryl hydrocarbon receptor complex", "id": "GO:0034751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034751", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q75NT5", "url": "https://www.uniprot.org/uniprotkb/Q75NT5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q75NT5-1" }, { "uniprot_canonical_ac": "Q76JQ2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 579, "chemical_mass": 64122.0, "gene_names": "Flcn;Bhd;Flcn", "protein_name": "Folliculin", "disease": [ { "disease_id": "DOID:0050387", "name": "nonpapillary renal cell carcinoma", "description": "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences.", "url": "https://disease-ontology.org/term/DOID:0050387", "evidence": [ { "id": "0050387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050387" } ], "weight": 0.0 }, { "disease_id": "DOID:0050676", "name": "Birt-Hogg-Dube syndrome", "description": "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11.", "url": "https://disease-ontology.org/term/DOID:0050676", "evidence": [ { "id": "0050676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050676" } ], "weight": 0.0 }, { "disease_id": "DOID:0080218", "name": "primary spontaneous pneumothorax", "description": "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung.", "url": "https://disease-ontology.org/term/DOID:0080218", "evidence": [ { "id": "0080218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080218" } ], "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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "pmid": "" }, { "name": "negative regulation of post-translational protein modification", "id": "GO:1901874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901874", "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "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": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q76JQ2", "url": "https://www.uniprot.org/uniprotkb/Q76JQ2" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "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: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:2215", "name": "factor VII deficiency", "description": "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.", "url": "https://disease-ontology.org/term/DOID:2215", "evidence": [ { "id": "2215", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2215" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "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:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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: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: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: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: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: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: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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "response to thyroxine", "id": "GO:0097068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097068", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "positive regulation of leukocyte chemotaxis", "id": "GO:0002690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002690", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to vitamin K", "id": "GO:0032571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032571", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to carbon dioxide", "id": "GO:0010037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010037", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "positive regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010641", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to genistein", "id": "GO:0033595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033595", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to Thyroid stimulating hormone", "id": "GO:1904400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904400", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to 2,3,7,8-tetrachlorodibenzodioxine", "id": "GO:1904612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904612", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to astaxanthin", "id": "GO:1905217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905217", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "response to thyrotropin-releasing hormone", "id": "GO:1905225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905225", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "regulation of multicellular organismal process", "id": "GO:0051239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051239", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8K3U6", "url": "https://www.uniprot.org/uniprotkb/Q8K3U6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": 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"https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "carbohydrate phosphatase activity", "id": "GO:0019203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019203", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "glycogen binding", "id": "GO:2001069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001069", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" } ], "biological_process": [ { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "dephosphorylation", "id": "GO:0016311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016311", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "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": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "glial cell proliferation", "id": "GO:0014009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014009", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of dephosphorylation", "id": "GO:0035305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035305", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of glycogen (starch) synthase activity", "id": "GO:2000465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000465", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "negative regulation of phosphatase activity", "id": "GO:0010923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010923", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of protein import into nucleus", "id": "GO:0042306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042306", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "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": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "carbohydrate phosphorylation", "id": "GO:0046835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046835", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "regulation of ubiquitin protein ligase activity", "id": "GO:1904666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904666", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasmic side of endoplasmic reticulum membrane", "id": "GO:0098554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098554", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ], "pmid": "" }, { "name": "nucleus", "id": 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"phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ2", "url": "https://www.uniprot.org/uniprotkb/Q91XQ2" } ] } ] } ], "record_id": "Q91XQ2-1" }, { "uniprot_canonical_ac": "Q920D2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 187, "chemical_mass": 21638.0, "gene_names": "Dhfr;Dhfr1;Dhfr", "protein_name": "Dihydrofolate reductase", "disease": [ { "disease_id": "DOID:0051046", "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type", "description": "A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23.", "url": "https://disease-ontology.org/term/DOID:0051046", "evidence": [ { "id": "0051046", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051046" } ], "weight": 0.0 }, { "disease_id": "DOID:0061155", "name": "kyphomelic dysplasia", "description": "A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.", "url": "https://disease-ontology.org/term/DOID:0061155", "evidence": [ { "id": "0061155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061155" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "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:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "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:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "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:57", "name": "aortic valve insufficiency", "description": "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.", "url": "https://disease-ontology.org/term/DOID:57", "evidence": [ { "id": "57", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:57" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:971", "name": "tendinitis", "description": "", "url": "https://disease-ontology.org/term/DOID:971", "evidence": [ { "id": "971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:971" } ], "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": "mRNA regulatory element binding translation repressor activity", "id": "GO:0000900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000900", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "sequence-specific mRNA binding", "id": "GO:1990825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990825", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "dihydrofolate reductase activity", "id": "GO:0004146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004146", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "folic acid binding", "id": "GO:0005542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005542", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "folate reductase activity", "id": "GO:0033560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033560", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "dihydrofolic acid binding", "id": "GO:0051871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051871", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor", "id": "GO:0016646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016646", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" } ], "biological_process": [ { "name": "tetrahydrofolate biosynthetic process", "id": "GO:0046654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046654", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "folic acid metabolic process", "id": "GO:0046655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046655", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "response to methotrexate", "id": "GO:0031427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031427", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "tetrahydrobiopterin biosynthetic process", "id": "GO:0006729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006729", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "tetrahydrofolate metabolic process", "id": "GO:0046653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046653", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "regulation of removal of superoxide radicals", "id": "GO:2000121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000121", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "dihydrofolate metabolic process", "id": "GO:0046452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046452", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "'de novo' pyrimidine nucleobase biosynthetic process", "id": "GO:0006207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006207", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "Q920D2", "url": "https://www.uniprot.org/uniprotkb/Q920D2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q920D2-1" }, { "uniprot_canonical_ac": "Q920J3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920J3", "url": "https://www.uniprot.org/uniprotkb/Q920J3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 472, "chemical_mass": 52948.0, "gene_names": "Coro6;Coro6", "protein_name": "Coronin-6", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": "0070515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070515" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "Q920J3", "url": "https://www.uniprot.org/uniprotkb/Q920J3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q920J3", "url": "https://www.uniprot.org/uniprotkb/Q920J3" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q920J3", "url": "https://www.uniprot.org/uniprotkb/Q920J3" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q920J3", "url": "https://www.uniprot.org/uniprotkb/Q920J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q920J3-1" }, { "uniprot_canonical_ac": "Q920L7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 299, "chemical_mass": 35235.0, "gene_names": "Elovl5;Elovl5;rELO1", "protein_name": "Very long chain fatty acid elongase 5", "disease": [ { "disease_id": "DOID:0050985", "name": "spinocerebellar ataxia 38", "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.", "url": "https://disease-ontology.org/term/DOID:0050985", "evidence": [ { "id": "0050985", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050985" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "dendritic tree", "id": "GO:0097447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097447", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "sphingolipid biosynthetic process", "id": "GO:0030148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030148", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA biosynthetic process", "id": "GO:0035338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035338", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "positive regulation of fatty acid biosynthetic process", "id": "GO:0045723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045723", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "fatty acid elongation, monounsaturated fatty acid", "id": "GO:0034625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034625", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "fatty acid elongation, polyunsaturated fatty acid", "id": "GO:0034626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034626", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "fatty acid elongation, saturated fatty acid", "id": "GO:0019367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019367", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" }, { "name": "very long-chain fatty acid biosynthetic process", "id": "GO:0042761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042761", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid elongase activity", "id": "GO:0009922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009922", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q920L7-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "No effect on fatty acid elongase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" }, { "database": "PubMed", "id": "23873268", "url": "https://glygen.org/publication/PubMed/23873268" } ] } ] }, { "uniprot_canonical_ac": "Q920L7-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Cys219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on fatty acid elongase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" }, { "database": "PubMed", "id": "23873268", "url": "https://glygen.org/publication/PubMed/23873268" } ] } ] }, { "uniprot_canonical_ac": "Q920L7-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Gly220", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on fatty acid elongase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" }, { "database": "PubMed", "id": "23873268", "url": "https://glygen.org/publication/PubMed/23873268" } ] } ] }, { "uniprot_canonical_ac": "Q920L7-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Trp231", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Changed substrate specificity. Can elongate (7Z,10Z,13Z,16Z,19Z)-3-oxodocosapentaenoyl-CoA into (9Z,12Z,15Z,18Z,21Z)-3-oxotetracosapentaenoyl-CoA.", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" }, { "database": "PubMed", "id": "23873268", "url": "https://glygen.org/publication/PubMed/23873268" } ] } ] }, { "uniprot_canonical_ac": "Q920L7-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Tyr233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "I", "comment": "No effect on fatty acid elongase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920L7", "url": "https://www.uniprot.org/uniprotkb/Q920L7" }, { "database": "PubMed", "id": "23873268", "url": "https://glygen.org/publication/PubMed/23873268" } ] } ] } ], "record_id": "Q920L7-1" }, { "uniprot_canonical_ac": "Q920M9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": 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"name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "beta-catenin destruction complex", "id": "GO:0030877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030877", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": 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activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme binding", "id": "GO:0031624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031624", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q920M9-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920M9", "url": "https://www.uniprot.org/uniprotkb/Q920M9" } ] } ] } ], "record_id": "Q920M9-1" }, { "uniprot_canonical_ac": "Q920R3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920R3", "url": "https://www.uniprot.org/uniprotkb/Q920R3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 447, "chemical_mass": 52482.0, "gene_names": "Fads1;Fads1", "protein_name": "Acyl-CoA (8-3)-desaturase", "disease": [ { "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: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: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", 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"description": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.", "url": "https://disease-ontology.org/term/DOID:0050590", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ], "weight": 0.0 }, { "disease_id": "DOID:0080178", "name": "mucositis", "description": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"https://www.alliancegenome.org/disease/DOID:0060181" } ], "weight": 0.0 }, { "disease_id": "DOID:0060193", "name": "amyotrophic lateral sclerosis type 1", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.", "url": "https://disease-ontology.org/term/DOID:0060193", "evidence": [ { "id": "0060193", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060193" } ], "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:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0060688", "evidence": [ { "id": "0060688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "weight": 0.0 }, { "disease_id": "DOID:0111253", "name": "neurofibromatosis 1", "description": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.", "url": "https://disease-ontology.org/term/DOID:0111253", "evidence": [ { "id": "0111253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111253" } ], "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:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "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: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:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13812", "name": "adhesions of uterus", "description": "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.", "url": "https://disease-ontology.org/term/DOID:13812", "evidence": [ { "id": "13812", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13812" } ], "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:14256", "name": "adult-onset Still's disease", "description": "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.", "url": "https://disease-ontology.org/term/DOID:14256", "evidence": [ { "id": "14256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14256" } ], "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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "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: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:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "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: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:3179", "name": "inverted papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:3179", "evidence": [ { "id": "3179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3179" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3512", "name": "neurofibrosarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:3512", "evidence": [ { "id": "3512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3512" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5176", "name": "renal Wilms' tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5176", "evidence": [ { "id": "5176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5176" } ], "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: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:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7736", "name": "retinal telangiectasia", "description": "", "url": "https://disease-ontology.org/term/DOID:7736", "evidence": [ { "id": "7736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7736" } ], "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:8505", "name": "dermatitis herpetiformis", "description": "", "url": "https://disease-ontology.org/term/DOID:8505", "evidence": [ { "id": "8505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8505" } ], "weight": 0.0 }, { "disease_id": "DOID:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9810", "name": "polyarteritis nodosa", "description": "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.", "url": "https://disease-ontology.org/term/DOID:9810", "evidence": [ { "id": "9810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9810" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901532", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of protein localization to early endosome", "id": "GO:1902966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902966", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular stress response to acid chemical", "id": "GO:0097533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097533", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "primitive erythrocyte differentiation", "id": "GO:0060319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060319", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway", "id": "GO:0038033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038033", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "motor neuron migration", "id": "GO:0097475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097475", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "lymph vessel morphogenesis", "id": "GO:0036303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036303", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "bone trabecula morphogenesis", "id": "GO:0061430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061430", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "basophil chemotaxis", "id": "GO:0002575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002575", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cell 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"" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative 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"https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of blood vessel branching", "id": "GO:1905555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905555", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of blood-brain barrier permeability", "id": "GO:1905604", "url": 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"GO:1901165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901165", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "regulation of endothelial cell differentiation", "id": "GO:0045601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045601", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } 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"https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of protein autophosphorylation", "id": "GO:0031954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031954", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of bone resorption", "id": "GO:0045779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045779", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "eye photoreceptor cell development", "id": "GO:0042462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042462", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": 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regulation of establishment of endothelial barrier", "id": "GO:1903141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903141", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye development", "id": "GO:0031077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031077", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "VEGF-activated neuropilin signaling pathway", "id": "GO:0038190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038190", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of axon extension involved in axon guidance", "id": "GO:0048842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048842", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900748", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "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": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of lymphangiogenesis", "id": "GO:1901492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901492", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of epithelial tube formation", "id": "GO:1905278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905278", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cellular response to wortmannin", "id": "GO:1904568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904568", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell development", "id": "GO:0060948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060948", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "coronary vein morphogenesis", "id": "GO:0003169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003169", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "regulation of nitric oxide mediated signal transduction", "id": "GO:0010749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010749", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000048", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:1903589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903589", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": "https://www.uniprot.org/uniprotkb/P16612" } ], "pmid": "" }, { "name": "immune system process", "id": "GO:0002376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002376", "evidence": [ { "database": "UniProtKB", "id": "P16612", "url": 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"name": "cardiac neuron differentiation", "id": "GO:0060945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060945", "evidence": [ { "database": "UniProtKB", "id": "P29534", "url": "https://www.uniprot.org/uniprotkb/P29534" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P29534", "url": "https://www.uniprot.org/uniprotkb/P29534" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P29534", "url": "https://www.uniprot.org/uniprotkb/P29534" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P29534", "url": "https://www.uniprot.org/uniprotkb/P29534" } ], "pmid": "" }, { "name": "primary 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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:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy.", "url": "https://disease-ontology.org/term/DOID:3891", "evidence": [ { "id": "3891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ], "weight": 0.0 }, { "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: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "ribose phosphate diphosphokinase complex", "id": "GO:0002189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002189", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "GDP binding", "id": "GO:0019003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019003", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "ribose phosphate diphosphokinase activity", "id": "GO:0004749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004749", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" } ], "biological_process": [ { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "AMP biosynthetic process", "id": "GO:0006167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006167", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "5-phosphoribose 1-diphosphate biosynthetic process", "id": "GO:0006015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006015", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "purine nucleotide biosynthetic process", "id": "GO:0006164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "ribonucleoside monophosphate biosynthetic process", "id": "GO:0009156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009156", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" }, { "name": "nucleotide biosynthetic process", "id": "GO:0009165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", "evidence": [ { "database": "UniProtKB", "id": "P09330", "url": "https://www.uniprot.org/uniprotkb/P09330" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P09330-1" }, { "uniprot_canonical_ac": "P10111-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 164, "chemical_mass": 17874.0, "gene_names": "Ppia;CYCA;CyP-A;Ppial4d;Ppia;p1B15;p31", "protein_name": "Peptidyl-prolyl cis-trans isomerase A", "disease": [ { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:12506", "name": "Bell's palsy", "description": "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).", "url": "https://disease-ontology.org/term/DOID:12506", "evidence": [ { "id": "12506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12506" } ], "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: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: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of apoptotic signaling pathway", "id": "GO:2001233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001233", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "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": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "activation of protein kinase B activity", "id": "GO:0032148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032148", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P10111", "url": "https://www.uniprot.org/uniprotkb/P10111" } ], "pmid": "" }, { "name": "platelet aggregation", "id": "GO:0070527", "url": 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"https://www.uniprot.org/uniprotkb/P55006" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P55006", "url": "https://www.uniprot.org/uniprotkb/P55006" } ], "pmid": "" } ], "biological_process": [ { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "P55006", "url": "https://www.uniprot.org/uniprotkb/P55006" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P55006", "url": "https://www.uniprot.org/uniprotkb/P55006" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P55006-1" }, { "uniprot_canonical_ac": "P05765-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P05765", "url": "https://www.uniprot.org/uniprotkb/P05765" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 83, "chemical_mass": 9127.0, "gene_names": "LOC100359505;Rps21;Rps21", "protein_name": "Small ribosomal subunit protein eS21", "disease": [], "cellular_component": [ { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "P05765", "url": "https://www.uniprot.org/uniprotkb/P05765" } ], "pmid": "" }, { "name": "cytosolic small ribosomal subunit", "id": "GO:0022627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022627", "evidence": [ { "database": "UniProtKB", "id": "P05765", "url": "https://www.uniprot.org/uniprotkb/P05765" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ 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"https://www.uniprot.org/uniprotkb/P05765" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P05765-1" }, { "uniprot_canonical_ac": "O88779-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O88779", "url": "https://www.uniprot.org/uniprotkb/O88779" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 164, "chemical_mass": 17662.0, "gene_names": "Rhbdl1;Rhbdl", "protein_name": "Rhomboid-related protein 1", "disease": [ { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "O88779", "url": "https://www.uniprot.org/uniprotkb/O88779" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "O88779", "url": "https://www.uniprot.org/uniprotkb/O88779" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88779", "url": "https://www.uniprot.org/uniprotkb/O88779" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O88779-1" }, { "uniprot_canonical_ac": "P09810-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 444, "chemical_mass": 51068.0, "gene_names": "Sergef;Tph1;Tph1;Tph", "protein_name": "Tryptophan 5-hydroxylase 1", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10930", "name": "borderline personality disorder", "description": "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.", "url": "https://disease-ontology.org/term/DOID:10930", "evidence": [ { "id": "10930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10930" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:9478", "name": "postpartum depression", "description": "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth.", "url": "https://disease-ontology.org/term/DOID:9478", "evidence": [ { "id": "9478", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9478" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "tryptophan 5-monooxygenase activity", "id": "GO:0004510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004510", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen", "id": "GO:0016714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016714", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" } ], "biological_process": [ { "name": "platelet degranulation", "id": "GO:0002576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002576", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { 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"UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "serotonin biosynthetic process", "id": "GO:0042427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042427", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "serotonin biosynthetic process from tryptophan", "id": "GO:0006587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006587", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "regulation of hemostasis", "id": "GO:1900046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900046", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "aromatic amino acid metabolic process", "id": "GO:0009072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009072", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P09810-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P09810", "url": "https://www.uniprot.org/uniprotkb/P09810" }, { "database": "iPTMnet", "id": "P09810", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09810" }, { "database": "PubMed", "id": "18705647", "url": "https://glygen.org/publication/PubMed/18705647" } ] } ] } ], "record_id": "P09810-1" }, { "uniprot_canonical_ac": "O35932-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O35932", "url": "https://www.uniprot.org/uniprotkb/O35932" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 357, "chemical_mass": 39803.0, "gene_names": "Ptgdrl;Ptgdr;AABR07017241.1;Ptgdr2;Ptgdrl1;Ptgdrl;Ptgdr", "protein_name": "Prostaglandin D2 receptor-like", "disease": [ { "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:2841", "name": 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"database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte proliferation", "id": "GO:0010838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010838", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P35231", "url": "https://www.uniprot.org/uniprotkb/P35231" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P35231-1" }, { "uniprot_canonical_ac": "P43114-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 488, "chemical_mass": 53366.0, "gene_names": "Ptger4;EP4;Ptger4;Ptgerep4;Ptger", "protein_name": "Prostaglandin E2 receptor EP4 subtype", "disease": [ { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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{ "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 } ], "biological_process": [ { "name": "negative regulation of integrin activation", "id": "GO:0033624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033624", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "chemokinesis", "id": "GO:0042466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042466", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "negative regulation of ductus arteriosus closure", "id": "GO:1904336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904336", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of calcitonin secretion", "id": "GO:1904364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904364", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of chemokinesis", "id": "GO:1904367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904367", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of substance P secretion", "id": "GO:1904460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904460", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of matrix metallopeptidase secretion", "id": "GO:1904466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904466", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "negative regulation of endothelin production", "id": "GO:1904471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904471", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of substance P secretion, neurotransmission", "id": "GO:1904496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904496", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "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": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "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": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of neutrophil extravasation", "id": "GO:2000391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000391", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P43114", "url": "https://www.uniprot.org/uniprotkb/P43114" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": 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"name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "negative regulation of superoxide anion generation", "id": "GO:0032929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032929", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "bone 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production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "response to L-ascorbic acid", "id": "GO:0033591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033591", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "cellular response to zinc ion starvation", "id": "GO:0034224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034224", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "P29288", "url": "https://www.uniprot.org/uniprotkb/P29288" } ], "pmid": "" }, { "name": "multicellular organismal response to 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P35815", "url": "https://www.uniprot.org/uniprotkb/P35815" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 390, "chemical_mass": 42889.0, "gene_names": "Ppm1b;PP2C-beta;Pp2c2;Ppm1b;Pppm1b", "protein_name": "Protein phosphatase 1B", "disease": [ { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0080339", "name": "familial erythrocytosis 4", "description": "A primary polycythemia that has_material_basis_in autosomal 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"P23680", "url": "https://www.uniprot.org/uniprotkb/P23680" } ], "pmid": "" }, { "name": "negative regulation of glycoprotein metabolic process", "id": "GO:1903019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903019", "evidence": [ { "database": "UniProtKB", "id": "P23680", "url": "https://www.uniprot.org/uniprotkb/P23680" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "P23680", "url": "https://www.uniprot.org/uniprotkb/P23680" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P23680", "url": "https://www.uniprot.org/uniprotkb/P23680" } ], "pmid": "" }, { "name": "negative regulation by host of viral glycoprotein metabolic process", "id": "GO:0044871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044871", "evidence": [ { "database": "UniProtKB", "id": "P23680", "url": "https://www.uniprot.org/uniprotkb/P23680" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23680-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asn52", "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": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "P23680", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23680#ptm_processing" } ] } ] } ], "record_id": "P23680-1" }, { "uniprot_canonical_ac": "P11685-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 194, "chemical_mass": 21043.0, "gene_names": "Sftpc;SP-C;Sftp2;Sftpc", "protein_name": "Surfactant protein C", "disease": [ { "disease_id": "DOID:0050158", "name": "desquamative interstitial pneumonia", "description": "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.", "url": "https://disease-ontology.org/term/DOID:0050158", "evidence": [ { "id": "0050158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050158" } ], "weight": 0.0 }, { "disease_id": "DOID:0050331", "name": "lacrimoauriculodentodigital syndrome 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.", "url": "https://disease-ontology.org/term/DOID:0050331", "evidence": [ { "id": "0050331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050331" } ], "weight": 0.0 }, { "disease_id": "DOID:0080425", "name": "developmental and epileptic encephalopathy 47", "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080425", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ], "weight": 0.0 }, { "disease_id": "DOID:0081372", "name": "lacrimoauriculodentodigital syndrome 3", "description": "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0081372", "evidence": [ { "id": "0081372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081372" } ], "weight": 0.0 }, { "disease_id": "DOID:0111549", "name": "aplasia of lacrimal and salivary glands", "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.", "url": "https://disease-ontology.org/term/DOID:0111549", "evidence": [ { "id": "0111549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111549" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "alveolar lamellar body", "id": "GO:0097208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097208", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P11685", "url": "https://www.uniprot.org/uniprotkb/P11685" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P11685-1" }, { "uniprot_canonical_ac": "P70580-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 195, "chemical_mass": 21598.0, "gene_names": "Pgrmc1;25-Dx;25Dx;25dx;Lewi;MPR;Pgrmc1;Pgrmc;VEMA", "protein_name": "Membrane-associated progesterone receptor component 1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of synapse organization", "id": "GO:1905809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905809", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "modification of synaptic structure", "id": "GO:0099563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099563", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "positive regulation of lipoprotein transport", "id": "GO:0140077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140077", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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"database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "smooth endoplasmic reticulum membrane", "id": "GO:0030868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030868", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P70580-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Ser181", "weight": 0.0, "phosphorylation": [ { 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"evidence": [ { "database": "UniProtKB", "id": "P70580", "url": "https://www.uniprot.org/uniprotkb/P70580" } ] } ] } ], "record_id": "P70580-1" }, { "uniprot_canonical_ac": "P34207-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P34207", "url": "https://www.uniprot.org/uniprotkb/P34207" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 223, "chemical_mass": 25844.0, "gene_names": "Prl3d4;Csh1l1;Csh1v;Pl-Iv;Prl3d4", "protein_name": "Prolactin-3D4", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in 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"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:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:13250", "name": "diarrhea", "description": "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. 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There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "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:543", "name": "dystonia", "description": "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.", "url": "https://disease-ontology.org/term/DOID:543", "evidence": [ { "id": 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"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:9246", "name": "cerebral amyloid angiopathy", "description": "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.", "url": "https://disease-ontology.org/term/DOID:9246", "evidence": [ { "id": "9246", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9246" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to UV-B", "id": "GO:0071493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071493", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "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": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P07861", "url": "https://www.uniprot.org/uniprotkb/P07861" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { 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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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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://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:3756", "name": "protein C deficiency", "description": "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.", "url": "https://disease-ontology.org/term/DOID:3756", "evidence": [ { "id": "3756", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3756" } ], "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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9667", "name": "placental abruption", "description": "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.", "url": "https://disease-ontology.org/term/DOID:9667", "evidence": [ { "id": "9667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9667" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of circulating fibrinogen levels", "id": "GO:0044537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044537", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "positive regulation of establishment of endothelial barrier", "id": "GO:1903142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903142", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "negative regulation of coagulation", "id": "GO:0050819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050819", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "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": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P31394", "url": "https://www.uniprot.org/uniprotkb/P31394" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { 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"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:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0110024", "name": "age related macular degeneration 12", "description": "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.", "url": "https://disease-ontology.org/term/DOID:0110024", "evidence": [ { "id": "0110024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110024" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "microvillus assembly", "id": "GO:0030033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030033", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "acrosome reaction", "id": "GO:0007340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007340", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "vesicle targeting", "id": "GO:0006903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006903", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cornified envelope assembly", "id": "GO:1903575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903575", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" } ], "cellular_component": [ { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": "https://www.uniprot.org/uniprotkb/P50279" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50279-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P50279", "url": 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through bloodstream in patients with acute leukemia and recipients of tissue transplants. 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"https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID:13208", "name": "background diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13208", "evidence": [ { "id": "13208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13208" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID: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:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1967", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "weight": 0.0 }, { "disease_id": "DOID: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:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "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:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"" }, { "name": "vascular endothelial growth factor receptor-1 signaling pathway", "id": "GO:0036323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036323", "evidence": [ { "database": "UniProtKB", "id": "P53767", "url": "https://www.uniprot.org/uniprotkb/P53767" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor production", "id": "GO:1904046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904046", "evidence": [ { "database": "UniProtKB", "id": "P53767", "url": "https://www.uniprot.org/uniprotkb/P53767" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "P53767", "url": "https://www.uniprot.org/uniprotkb/P53767" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { 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"", "evidence": [ { "database": "UniProtKB", "id": "P34067", "url": "https://www.uniprot.org/uniprotkb/P34067" } ] } ] } ], "record_id": "P34067-1" }, { "uniprot_canonical_ac": "Q3B7D5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 326, "chemical_mass": 38021.0, "gene_names": "Rassf2;Rassf2", "protein_name": "Ras association domain-containing protein 2", "disease": [], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", 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"Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": "https://www.uniprot.org/uniprotkb/Q3B7D5" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "Q3B7D5", "url": 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"https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that 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"https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 production", "id": "GO:0032914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032914", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of calcium-independent cell-cell adhesion", "id": "GO:0051041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051041", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" 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regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "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": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "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": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "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": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis", "id": "GO:0048247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048247", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "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": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "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": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "integrin activation", "id": "GO:0033622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033622", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "angiogenesis involved in wound healing", "id": "GO:0060055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060055", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031664", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "autocrine signaling", "id": "GO:0035425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035425", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 alpha production", "id": "GO:0032690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032690", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of glutamate receptor signaling pathway", "id": "GO:1900450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900450", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "negative regulation of hippocampal neuron apoptotic process", "id": "GO:0110091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110091", "evidence": [ { "database": "UniProtKB", "id": "O55145", "url": "https://www.uniprot.org/uniprotkb/O55145" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in 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"https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide biosynthetic process", "id": "GO:0010730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010730", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046425", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to 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"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": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "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": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "parturition", "id": "GO:0007567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007567", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "ovulation cycle", "id": "GO:0042698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042698", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "maternal behavior", "id": "GO:0042711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042711", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "positive regulation of lactation", "id": "GO:1903489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903489", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to macrophage colony-stimulating factor", "id": "GO:0036005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036005", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "prolactin signaling pathway", "id": "GO:0038161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038161", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "response to trichostatin A", "id": "GO:0035983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035983", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "negative regulation of estrogen biosynthetic process", "id": "GO:1904077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904077", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" }, { "name": "negative regulation of progesterone biosynthetic process", "id": "GO:2000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000183", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], "pmid": "" } ], "molecular_function": [ { "name": "prolactin receptor binding", "id": "GO:0005148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005148", "evidence": [ { "database": "UniProtKB", "id": "P01237", "url": "https://www.uniprot.org/uniprotkb/P01237" } ], 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"taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P02782", "url": "https://www.uniprot.org/uniprotkb/P02782" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 111, "chemical_mass": 12763.0, "gene_names": "Psbpc1;Pbpc1bs;Psbpc1;Scgb1d2", "protein_name": "Prostatic steroid-binding protein C1", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02782", "url": "https://www.uniprot.org/uniprotkb/P02782" } ], "pmid": "" } ], "molecular_function": [ { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P02782", "url": "https://www.uniprot.org/uniprotkb/P02782" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02782-1" }, { "uniprot_canonical_ac": "P03926-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 172, "chemical_mass": 18923.0, "gene_names": "Mt-nd6;Mtnd6;ND6;Nd6", "protein_name": "NADH-ubiquinone oxidoreductase chain 6", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0070350", "name": "spinal muscular atrophy with lower extremity predominant 2B", "description": "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0070350", "evidence": [ { "id": "0070350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070350" } ], "weight": 0.0 }, { "disease_id": "DOID:3650", "name": "lactic acidosis", "description": "A metabolic acidosis characterized by buildup of lactate.", "url": "https://disease-ontology.org/term/DOID:3650", "evidence": [ { "id": "3650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3650" } ], "weight": 0.0 }, { "disease_id": "DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.", "url": "https://disease-ontology.org/term/DOID:3652", "evidence": [ { "id": "3652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3652" } ], "weight": 0.0 }, { "disease_id": "DOID:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" }, { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" } ], "molecular_function": [ { "name": "NADH dehydrogenase (ubiquinone) activity", "id": "GO:0008137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008137", "evidence": [ { "database": "UniProtKB", "id": "P03926", "url": "https://www.uniprot.org/uniprotkb/P03926" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P03926-1" }, { "uniprot_canonical_ac": "P04089-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 115, "chemical_mass": 12722.0, "gene_names": "Pth;PTH-(1-84);Pth1;Pthr1;Pth", "protein_name": "Parathyroid hormone", "disease": [ { "disease_id": "DOID:0050459", "name": "hyperphosphatemia", "description": "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.", "url": "https://disease-ontology.org/term/DOID:0050459", "evidence": [ { "id": "0050459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050459" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0061150", "name": "familial isolated hypoparathyroidism 1", "description": "A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0061150", "evidence": [ { "id": "0061150", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061150" } ], "weight": 0.0 }, { "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:0090109", "name": "autosomal dominant hypocalcemia", "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.", "url": "https://disease-ontology.org/term/DOID:0090109", "evidence": [ { "id": "0090109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090109" } ], "weight": 0.0 }, { "disease_id": "DOID:0111387", "name": "familial isolated hypoparathyroidism", "description": "A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.", "url": "https://disease-ontology.org/term/DOID:0111387", "evidence": [ { "id": "0111387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111387" } ], "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:11202", "name": "primary hyperparathyroidism", "description": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.", "url": "https://disease-ontology.org/term/DOID:11202", "evidence": [ { "id": "11202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11202" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:12466", "name": "secondary hyperparathyroidism", "description": "", "url": "https://disease-ontology.org/term/DOID:12466", "evidence": [ { "id": "12466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12466" } ], "weight": 0.0 }, { "disease_id": "DOID:12678", "name": "hypercalcemia", "description": "", "url": "https://disease-ontology.org/term/DOID:12678", "evidence": [ { "id": "12678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12678" } ], "weight": 0.0 }, { "disease_id": "DOID:12679", "name": "nephrocalcinosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12679", "evidence": [ { "id": "12679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12679" } ], "weight": 0.0 }, { "disease_id": "DOID:13068", "name": "renal osteodystrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:13068", "evidence": [ { "id": "13068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13068" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of bone mineralization involved in bone maturation", "id": "GO:1900158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900158", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "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": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "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": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "P04089", "url": "https://www.uniprot.org/uniprotkb/P04089" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0160041", "evidence": [ { "database": "UniProtKB", "id": "P06767", "url": "https://www.uniprot.org/uniprotkb/P06767" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P06767-1" }, { "uniprot_canonical_ac": "P06768-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P06768", "url": "https://www.uniprot.org/uniprotkb/P06768" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 134, "chemical_mass": 15585.0, "gene_names": "Rbp2;Crbpii;Rbp2", "protein_name": "Retinol-binding protein 2", "disease": [ { "disease_id": "DOID:0080941", "name": "acquired angioedema", "description": "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.", "url": "https://disease-ontology.org/term/DOID:0080941", "evidence": [ { "id": "0080941", 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"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:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "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:1612", "name": "breast cancer", "description": "An organ system cancer that 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has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "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": 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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: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: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: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": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P06768", "url": "https://www.uniprot.org/uniprotkb/P06768" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P06768", "url": "https://www.uniprot.org/uniprotkb/P06768" } ], "pmid": "" }, { "name": "retinol binding", "id": "GO:0019841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019841", "evidence": [ { "database": "UniProtKB", "id": "P06768", "url": "https://www.uniprot.org/uniprotkb/P06768" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P06768", "url": "https://www.uniprot.org/uniprotkb/P06768" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", 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"description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 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"0111503", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111503" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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:1035", "name": "aggressive NK-cell leukemia", "description": "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen.", "url": "https://disease-ontology.org/term/DOID:1035", "evidence": [ { "id": "1035", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1035" } ], "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:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10811", "name": "nasal cavity cancer", "description": "A respiratory system cancer that is located_in the nasal cavity.", "url": "https://disease-ontology.org/term/DOID:10811", "evidence": [ { "id": "10811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10811" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1350", "name": "paranasal sinus benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:1350", "evidence": [ { "id": "1350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1350" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "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:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:2626", "name": "choroid plexus papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:2626", "evidence": [ { "id": "2626", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2626" } ], "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:2729", "name": "dyskeratosis congenita", "description": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.", "url": "https://disease-ontology.org/term/DOID:2729", "evidence": [ { "id": "2729", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2729" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "weight": 0.0 }, { "disease_id": "DOID:3012", "name": "Li-Fraumeni syndrome", "description": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.", "url": "https://disease-ontology.org/term/DOID:3012", "evidence": [ { "id": "3012", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3012" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "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:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3702", "name": "cervical adenocarcinoma", "description": "A cervix carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3702", "evidence": [ { "id": "3702", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3702" } ], "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:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix.", "url": "https://disease-ontology.org/term/DOID:3744", "evidence": [ { "id": "3744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3744" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5744", "name": "ovary serous adenocarcinoma", "description": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity).", "url": "https://disease-ontology.org/term/DOID:5744", "evidence": [ { "id": "5744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5744" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:5940", "name": "malignant peripheral nerve sheath tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:5940", "evidence": [ { "id": "5940", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5940" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7575", "name": "pancreatic intraductal papillary-mucinous neoplasm", "description": "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts.", "url": "https://disease-ontology.org/term/DOID:7575", "evidence": [ { "id": "7575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7575" } ], "weight": 0.0 }, { "disease_id": "DOID:7614", "name": "meninges sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7614", "evidence": [ { "id": "7614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7614" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": 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"GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "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": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "regulation of intracellular pH", 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stress-induced premature senescence", "id": "GO:0090403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090403", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "response to metal ion", "id": "GO:0010038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010038", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "response to vitamin B3", "id": "GO:0033552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033552", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "signal transduction by p53 class mediator", "id": "GO:0072331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072331", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "cellular response to actinomycin D", "id": "GO:0072717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072717", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "response to benzene", "id": "GO:1901423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901423", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "negative regulation of pentose-phosphate shunt", "id": "GO:1905856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905856", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "negative regulation of G1 to G0 transition", "id": "GO:1903451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903451", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "cellular response to polyamine macromolecule", "id": "GO:1904584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904584", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "regulation of prostaglandin secretion", "id": "GO:0032306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032306", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "negative regulation of progesterone secretion", "id": "GO:2000871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000871", "evidence": [ { "database": "UniProtKB", "id": "P10361", "url": "https://www.uniprot.org/uniprotkb/P10361" } ], "pmid": "" }, { "name": "positive regulation of outer hair cell apoptotic process", "id": "GO:1905587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905587", "evidence": [ { 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raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P13852", "url": "https://www.uniprot.org/uniprotkb/P13852" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "P13852", "url": "https://www.uniprot.org/uniprotkb/P13852" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P13852", "url": "https://www.uniprot.org/uniprotkb/P13852" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13852-1", "start_pos": "181", "end_pos": "181", "site_lbl": "Asn181", "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": 181, "start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "P13852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P13852#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P13852-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "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": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P13852", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P13852#ptm_processing" } ] } ] } ], "record_id": "P13852-1" }, { "uniprot_canonical_ac": "P14423-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 146, "chemical_mass": 16294.0, "gene_names": "Pla2g2a;Pla2g2a;sPLA2", "protein_name": "Phospholipase A2, membrane associated", "disease": [ { "disease_id": "DOID:11151", "name": "cholecystolithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:11151", "evidence": [ { "id": "11151", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11151" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8534", "name": "gastroesophageal reflux disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8534", "evidence": [ { "id": "8534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8534" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "phosphatidic acid metabolic process", "id": "GO:0046473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046473", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "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": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "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": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "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": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "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": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "phosphatidylglycerol metabolic process", "id": "GO:0046471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046471", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "intestinal stem cell homeostasis", "id": "GO:0036335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036335", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "phosphatidylethanolamine metabolic process", "id": "GO:0046337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046337", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "regulation of neutrophil activation", "id": "GO:1902563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902563", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "phospholipase A2 activity", "id": "GO:0004623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004623", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P14423", "url": "https://www.uniprot.org/uniprotkb/P14423" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P14423-1" }, { "uniprot_canonical_ac": "P14730-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 74, "chemical_mass": 7740.0, "gene_names": "Wfdc18;Expi;Wdnm1", "protein_name": "WAP four-disulfide core domain protein 18", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" } ], "biological_process": [ { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P14730", "url": "https://www.uniprot.org/uniprotkb/P14730" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P14730-1" }, { "uniprot_canonical_ac": "P15399-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 177, "chemical_mass": 20780.0, "gene_names": "Pbsn;PB;Pbsn;Prbs", "protein_name": "Probasin", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "pmid": "" } ], "molecular_function": [ { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "P15399", "url": "https://www.uniprot.org/uniprotkb/P15399" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P15399-1" }, { "uniprot_canonical_ac": "P16610-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P16610", "url": "https://www.uniprot.org/uniprotkb/P16610" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 390, "chemical_mass": 43853.0, 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"GO:1901318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901318", "evidence": [ { "database": "UniProtKB", "id": "P22006", "url": "https://www.uniprot.org/uniprotkb/P22006" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "P22006", "url": "https://www.uniprot.org/uniprotkb/P22006" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P22006", "url": "https://www.uniprot.org/uniprotkb/P22006" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "P22006", "url": "https://www.uniprot.org/uniprotkb/P22006" } ], "pmid": "" }, { "name": "positive regulation of serine-type endopeptidase activity", "id": "GO:1900005", 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 376, "chemical_mass": 41590.0, "gene_names": "Sftpb;Sftp3;Sftpb;Sp-b", "protein_name": "Pulmonary surfactant-associated protein B", "disease": [ { "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:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "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:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "alveolar lamellar body", "id": "GO:0097208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097208", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "sphingolipid metabolic process", "id": "GO:0006665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006665", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to epidermal growth factor", "id": "GO:0070849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070849", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to Thyroglobulin triiodothyronine", "id": "GO:1904016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904016", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to interleukin-6", "id": "GO:0070741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070741", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P22355", "url": "https://www.uniprot.org/uniprotkb/P22355" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P22355-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Asn306", "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": 306, "start_aa": "Asn", "end_pos": 306, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn306", "evidence": [ { "id": "P22355", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22355#ptm_processing" }, { "id": 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"https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P23358", "url": "https://www.uniprot.org/uniprotkb/P23358" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P23358", "url": "https://www.uniprot.org/uniprotkb/P23358" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P23358", "url": "https://www.uniprot.org/uniprotkb/P23358" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P23358", "url": "https://www.uniprot.org/uniprotkb/P23358" } ], 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"evidence": [ { "database": "UniProtKB", "id": "P28073", "url": "https://www.uniprot.org/uniprotkb/P28073" } ], "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": "P28073", "url": "https://www.uniprot.org/uniprotkb/P28073" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "P28073", "url": "https://www.uniprot.org/uniprotkb/P28073" } ], "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": "P28073", "url": "https://www.uniprot.org/uniprotkb/P28073" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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"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:178", "name": "vascular disease", "description": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.", "url": "https://disease-ontology.org/term/DOID:178", "evidence": [ { "id": "178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:178" } ], "weight": 0.0 }, { "disease_id": "DOID:2006", "name": "preretinal fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:2006", "evidence": [ { "id": "2006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2006" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting 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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: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. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P31214", "url": "https://www.uniprot.org/uniprotkb/P31214" } ], "pmid": "" }, { "name": "response to follicle-stimulating hormone", "id": "GO:0032354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032354", "evidence": [ { "database": "UniProtKB", "id": "P31214", "url": "https://www.uniprot.org/uniprotkb/P31214" } ], "pmid": "" }, { "name": "testosterone biosynthetic process", "id": "GO:0061370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061370", "evidence": [ { "database": "UniProtKB", "id": "P31214", "url": "https://www.uniprot.org/uniprotkb/P31214" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "P31214", "url": "https://www.uniprot.org/uniprotkb/P31214" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": 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"hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" }, { "name": "positive regulation of lactation", "id": "GO:1903489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903489", "evidence": [ { "database": "UniProtKB", "id": "P33580", "url": "https://www.uniprot.org/uniprotkb/P33580" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P33580-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Asn211", "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": 211, "start_aa": "Asn", "end_pos": 211, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn211", "evidence": [ { "id": "P33580", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P33580#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P33580-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asn218", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, 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}, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P34978", "url": "https://www.uniprot.org/uniprotkb/P34978" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P34978", "url": "https://www.uniprot.org/uniprotkb/P34978" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P34978", "url": "https://www.uniprot.org/uniprotkb/P34978" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "P34978", "url": "https://www.uniprot.org/uniprotkb/P34978" } ], "pmid": "" }, 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"https://www.alliancegenome.org/disease/DOID:14654" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2384", "name": "Wernicke encephalopathy", "description": "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1).", "url": "https://disease-ontology.org/term/DOID:2384", "evidence": [ { "id": "2384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2384" } ], "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: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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3071", "name": "gliosarcoma", "description": "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation.", "url": "https://disease-ontology.org/term/DOID:3071", "evidence": [ { "id": "3071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3071" } ], "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:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "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: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: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:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:4543", "name": "retrograde amnesia", "description": "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection.", "url": "https://disease-ontology.org/term/DOID:4543", "evidence": [ { "id": "4543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4543" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6255", "name": "growth hormone secreting pituitary adenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6255", "evidence": [ { "id": "6255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6255" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8437", "name": "intestinal obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:8437", "evidence": [ { "id": "8437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8437" } ], "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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "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: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:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "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": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta production", "id": "GO:0071636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071636", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle contraction", "id": "GO:0045986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045986", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P35355", "url": "https://www.uniprot.org/uniprotkb/P35355" } ], 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"name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "platelet alpha granule membrane", "id": "GO:0031092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031092", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": 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"positive regulation of hydrogen peroxide catabolic process", "id": "GO:1903285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903285", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of chaperone-mediated autophagy", "id": "GO:1904715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904715", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "chemical 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"name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010642", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "P37377", 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"https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of exocytosis", "id": "GO:0045920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045920", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "regulation of macrophage activation", "id": "GO:0043030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043030", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of serotonin uptake", "id": "GO:0051612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051612", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "mitochondrial ATP synthesis coupled electron transport", "id": "GO:0042775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042775", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "positive regulation of inositol phosphate biosynthetic process", "id": "GO:0060732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060732", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:1904307", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter secretion", "id": "GO:0001956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001956", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "mitochondrial membrane organization", "id": "GO:0007006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007006", "evidence": [ { "database": "UniProtKB", "id": "P37377", "url": "https://www.uniprot.org/uniprotkb/P37377" } ], "pmid": "" }, { "name": "negative regulation of thrombin-activated receptor 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"https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": 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"" }, { "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": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "response to organophosphorus", "id": "GO:0046683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046683", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { 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"name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "positive regulation of inositol phosphate biosynthetic process", "id": "GO:0060732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060732", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "cellular response to gravity", "id": "GO:0071258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071258", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], "pmid": "" }, { "name": "positive regulation of transcytosis", "id": "GO:1904300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904300", "evidence": [ { "database": "UniProtKB", "id": "P46002", "url": "https://www.uniprot.org/uniprotkb/P46002" } ], 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"", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID: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" } ], 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"description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", 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"https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "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": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": 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"id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:1905007", "url": 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"id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P80204", "url": "https://www.uniprot.org/uniprotkb/P80204" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "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": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "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": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of smooth 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"https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway", "id": "GO:0038091", "url": 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"" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "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": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "metanephric glomerulus morphogenesis", "id": "GO:0072275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072275", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "metanephric mesenchyme development", "id": "GO:0072075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072075", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "metanephric comma-shaped body morphogenesis", "id": "GO:0072278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072278", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "metanephric S-shaped body morphogenesis", "id": "GO:0072284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072284", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "smooth muscle cell chemotaxis", "id": "GO:0071670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071670", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:0035793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035793", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "response to ceramide", "id": "GO:0106096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106096", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": 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"GO:0005161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005161", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q05030", "url": "https://www.uniprot.org/uniprotkb/Q05030" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": 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"https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070644", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" } ], "biological_process": [ { "name": "secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development", "id": "GO:0060528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060528", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": 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"https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "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": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "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": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": 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"https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "maternal placenta development", "id": "GO:0001893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001893", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035357", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "regulation of branching involved in prostate gland morphogenesis", "id": "GO:0060687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060687", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q05343", "url": "https://www.uniprot.org/uniprotkb/Q05343" } ], "pmid": "" }, { "name": "positive regulation of translational initiation by iron", "id": "GO:0045994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045994", "evidence": [ { "database": 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} ] } ] } ], "record_id": "Q80ZA5-1" }, { "uniprot_canonical_ac": "Q6AXW4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6AXW4", "url": "https://www.uniprot.org/uniprotkb/Q6AXW4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 380, "chemical_mass": 43388.0, "gene_names": "PHD finger protein 7;Phf7;Phf7", "protein_name": "E3 ubiquitin-protein ligase PHF7", "disease": [], "biological_process": [ { "name": "negative regulation of osteoclast proliferation", "id": "GO:0090291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090291", "evidence": [ { "database": "UniProtKB", "id": "Q6AXW4", "url": "https://www.uniprot.org/uniprotkb/Q6AXW4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6AXW4", "url": 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"https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q765A7", "url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q765A7", "url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" }, { "name": "positive regulation of ER to Golgi vesicle-mediated transport", "id": "GO:1902953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902953", "evidence": [ { "database": "UniProtKB", "id": "Q765A7", "url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity, acting on ester bonds", "id": "GO:0016788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016788", "evidence": [ { "database": "UniProtKB", "id": "Q765A7", "url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" }, { "name": "deacylase activity", "id": "GO:0160215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160215", "evidence": [ { "database": "UniProtKB", "id": "Q765A7", "url": "https://www.uniprot.org/uniprotkb/Q765A7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q765A7-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Asn363", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked 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catabolic process", "id": "GO:0043605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043605", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ94", "url": "https://www.uniprot.org/uniprotkb/Q7TQ94" } ], "pmid": "" } ], "molecular_function": [ { "name": "deaminated glutathione amidase activity", "id": "GO:0110050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110050", "evidence": [ { "database": "UniProtKB", "id": "Q7TQ94", "url": "https://www.uniprot.org/uniprotkb/Q7TQ94" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TQ94-1" }, { "uniprot_canonical_ac": "Q6AY61-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6AY61", "url": "https://www.uniprot.org/uniprotkb/Q6AY61" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 383, "chemical_mass": 43160.0, "gene_names": "Prss23;Prss23", "protein_name": "Serine protease 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"Q62969", "url": "https://www.uniprot.org/uniprotkb/Q62969" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q62969-1" }, { "uniprot_canonical_ac": "Q8CHM3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q8CHM3", "url": "https://www.uniprot.org/uniprotkb/Q8CHM3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 199, "chemical_mass": 21624.0, "gene_names": "Tp53inp2;Dor;Trp53inp2", "protein_name": "Tumor protein p53-inducible nuclear protein 2", "disease": [], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM3", "url": "https://www.uniprot.org/uniprotkb/Q8CHM3" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": 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"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:3981", "name": "pantothenate kinase-associated neurodegeneration", "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:3981", "evidence": [ { "id": "3981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3981" } ], "weight": 0.0 }, { "disease_id": "DOID:8761", "name": "acute megakaryocytic leukemia", "description": "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.", "url": "https://disease-ontology.org/term/DOID:8761", "evidence": [ { "id": "8761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8761" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" } ], "molecular_function": [ { "name": "transition metal ion binding", "id": "GO:0046914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046914", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "cuprous ion binding", "id": "GO:1903136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903136", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" } ], "biological_process": [ { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "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": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": 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"Thr", "site_lbl": "Thr27", "evidence": [ { "id": "19692427", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19692427" }, { "id": "Q63754", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q63754" }, { "id": "11739622", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/11739622" }, { "id": "Q63754", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q63754" } ] } ] }, { "uniprot_canonical_ac": "Q63754-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Ser118", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63754", "url": "https://www.uniprot.org/uniprotkb/Q63754" } ] } ] } ], "record_id": "Q63754-1" }, { "uniprot_canonical_ac": "Q6IN02-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 578, "chemical_mass": 63570.0, "gene_names": "Ppp1r15a;Gadd34;Myd116;Peg-3;Peg3;Ppp1r15a;RGD1624209", "protein_name": "Protein phosphatase 1 regulatory subunit 15A", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:10241", "name": "thalassemia", "description": "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.", "url": "https://disease-ontology.org/term/DOID:10241", "evidence": [ { "id": "10241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10241" } ], "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 } ], "molecular_function": [ { "name": "eukaryotic initiation factor eIF2 binding", "id": "GO:0071074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071074", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "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": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "response to environmental enrichment", "id": "GO:0090648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090648", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q6IN02", "url": "https://www.uniprot.org/uniprotkb/Q6IN02" } ], "pmid": "" }, { "name": "cellular response to antibiotic", 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060764", "name": "autosomal recessive Robinow syndrome", "description": "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111448", "name": "progressive myoclonus epilepsy 1B", "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111448", "evidence": [ { "id": "0111448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111448" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. 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characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "proteasome complex", "id": "GO:0000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000502", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cell trailing edge", "id": "GO:0031254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031254", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" } ], "biological_process": [ { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "renal tubule development", "id": "GO:0061326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061326", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "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": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "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": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity", "id": "GO:0007163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007163", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cytoskeleton-dependent intracellular transport", "id": "GO:0030705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030705", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "tear secretion", "id": "GO:0070075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070075", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "cilium organization", "id": "GO:0044782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044782", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q71QF9", "url": "https://www.uniprot.org/uniprotkb/Q71QF9" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": 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It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.", "url": "https://disease-ontology.org/term/DOID:0060652", "evidence": [ { "id": "0060652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060652" } ], "weight": 0.0 }, { "disease_id": "DOID:0060873", "name": "isolated growth hormone deficiency type IA", "description": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.", "url": "https://disease-ontology.org/term/DOID:0060873", "evidence": [ { "id": "0060873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060873" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0070009", "name": "Seckel syndrome 8", "description": "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21.", "url": "https://disease-ontology.org/term/DOID:0070009", "evidence": [ { "id": "0070009", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070009" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0111519", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6", "description": "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.", "url": "https://disease-ontology.org/term/DOID:0111519", "evidence": [ { "id": "0111519", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111519" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1107", "evidence": [ { "id": "1107", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14566", "name": "disease of cellular proliferation", "description": "A disease that is characterized by abnormally rapid cell division.", "url": "https://disease-ontology.org/term/DOID:14566", "evidence": [ { "id": "14566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14566" } ], "weight": 0.0 }, { "disease_id": "DOID:1577", "name": "limited scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1577", "evidence": [ { "id": "1577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2224", "name": "essential thrombocythemia", "description": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.", "url": "https://disease-ontology.org/term/DOID:2224", "evidence": [ { "id": "2224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "url": "https://disease-ontology.org/term/DOID:2531", "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:2717", "name": "Bloom syndrome", "description": "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.", "url": "https://disease-ontology.org/term/DOID:2717", "evidence": [ { "id": "2717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2717" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5688", "name": "Werner syndrome", "description": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.", "url": "https://disease-ontology.org/term/DOID:5688", "evidence": [ { "id": "5688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5688" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction.", "url": "https://disease-ontology.org/term/DOID:699", "evidence": [ { "id": "699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:699" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "positive regulation of growth hormone receptor signaling pathway", "id": "GO:0060399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060399", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "interleukin-5-mediated signaling pathway", "id": "GO:0038043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038043", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "interleukin-3-mediated signaling pathway", "id": "GO:0038156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038156", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "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": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "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": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": 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apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "Q62689", "url": "https://www.uniprot.org/uniprotkb/Q62689" } ], "pmid": "" }, { "name": "thrombopoietin-mediated signaling pathway", "id": "GO:0038163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038163", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "modulation of excitatory postsynaptic potential", "id": "GO:0098815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098815", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "sensory perception", "id": "GO:0007600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007600", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "Q62923", "url": "https://www.uniprot.org/uniprotkb/Q62923" } 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"url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 556, "chemical_mass": 61541.0, "gene_names": "Slc22a1;Oct1;Orct1;Roct1;Slc22a1", "protein_name": "Solute carrier family 22 member 1", "disease": [ { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { "disease_id": "DOID:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "quaternary ammonium group transmembrane transporter activity", "id": "GO:0015651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015651", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "norepinephrine:sodium symporter activity", "id": "GO:0005334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005334", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "toxin transmembrane transporter activity", "id": "GO:0019534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019534", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "choline transmembrane transporter activity", "id": "GO:0015220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015220", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "acetylcholine transmembrane transporter activity", "id": "GO:0005277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005277", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "dopamine:sodium symporter activity", "id": "GO:0005330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005330", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "prostaglandin transmembrane transporter activity", "id": "GO:0015132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015132", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "thiamine transmembrane transporter activity", "id": "GO:0015234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015234", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "putrescine transmembrane transporter activity", "id": "GO:0015489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015489", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transporter activity", "id": "GO:1901235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901235", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "pyrimidine nucleoside transmembrane transporter activity", "id": "GO:0015214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015214", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "spermidine transmembrane transporter activity", "id": "GO:0015606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015606", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" } ], "biological_process": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "metanephric proximal tubule development", "id": "GO:0072237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072237", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "monoatomic cation transport", "id": "GO:0006812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006812", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "establishment or maintenance of transmembrane electrochemical gradient", "id": "GO:0010248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010248", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "choline transport", "id": "GO:0015871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015871", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "thiamine transport", "id": "GO:0015888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015888", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "epinephrine transport", "id": "GO:0048241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048241", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "putrescine transport", "id": "GO:0015847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015847", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "thiamine transmembrane transport", "id": "GO:0071934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071934", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "prostaglandin transport", "id": "GO:0015732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015732", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "cellular detoxification", "id": "GO:1990748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990748", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transport", "id": "GO:1902270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902270", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "O-acyl-L-carnitine transmembrane transport", "id": "GO:1902616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902616", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "spermidine transport", "id": "GO:0015848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015848", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q63089-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q63089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q63089#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q63089", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63089" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Thr543", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Cys155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; S-322; A-358; A-418; S-437; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "212", "end_pos": "212", 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No change in MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Ser214", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Lys215", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Loss of TEA and MPP(+) uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of TEA and MPP(+) uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Gly216", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "No change in TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Trp218", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "F", "comment": "Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. No change in TEA and MPP(+) affinity. Decreased TEAVmax. No change in MPP(+) Vmax.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "W", "sequence_mut": "L", "comment": "Decreased guanidine, histamine, serotonin, TEA and MPP(+) uptake. Decreased TEA affinity. No change in MPP(+) affinity. Decreased TEA and MPP(+) Vmax.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "W", "sequence_mut": "Y", "comment": "Decreased guanidine, histamine, serotonin and TEA uptake. No change in MPP(+) uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Val219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "No change in TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Gly221", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Tyr222", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "No change in guanidine, histamine, serotonin, TEA and MPP(+) uptake. Increased TEA affinity. No change in MPP(+) affinity. Decreased TEAVmax. No change in MPP(+) Vmax.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "Y", "sequence_mut": "L", "comment": "Decreased guanidine, serotonin, TEA and MPP(+) uptake. No change in histamine uptake. Increased TEA and MPP(+) affinity. Decreased TEA and MPP(+) Vmax.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Thr223", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Decreased TEA uptake. No change in MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Leu224", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ile225", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "G", "comment": "No change in TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Decreased TEA uptake. No change in MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Glu227", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Loss of TEA and MPP(+) uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of TEA and MPP(+) uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Phe228", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "No change in TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Val229", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Decreased TEA and MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Loss of TEA and MPP(+) uptake activity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15662044", "url": "https://glygen.org/publication/PubMed/15662044" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Cys26", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-155; A-179; S-322; A-358; A-418; S-437; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Ser286", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-292; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-292; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-292; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-292; A-296; A-328 and A-550.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15829703", "url": "https://glygen.org/publication/PubMed/15829703" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Ser292", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-296; A-328 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-296; A-328 and A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-296; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-296; A-328 and A-550.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15829703", "url": "https://glygen.org/publication/PubMed/15829703" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "296", "end_pos": "296", "site_lbl": "Thr296", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-328; A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-328; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-328 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-328 and A-550.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15829703", "url": "https://glygen.org/publication/PubMed/15829703" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Cys322", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with M-451. Choline affinity is increased fivefold by MMTS. Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; A-358; A-418; S-437; A-470 and A-474. Choline affinity is increased four- to fivefold; when associated with M-451.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Ser328", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. No effect of PKA activation on ASP uptake. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-550. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-550. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-550. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-550.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15829703", "url": "https://glygen.org/publication/PubMed/15829703" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Cys358", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-418; S-437; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Cys418", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; S-437; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Cys437", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-470 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Cys451", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "M", "comment": "Reduces the activation by MMTS. Abolishes the activation by MMTs; when associated with S-322. Abolishes the effect of MMTs on choline-induced currents. Choline affinity is not influenced by MMTS. Choline affinity is increased four- to fivefold; when associated with S-322.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Cys470", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-474.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Cys474", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Choline affinity is increased fourfold by MMTS; when associated with A-26; A-155; A-179; S-322; A-358; A-418; A-437 and A-470.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "17567940", "url": "https://glygen.org/publication/PubMed/17567940" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Asp475", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Decreased MPP(+) uptake, no change in MPP(+) affinity. Decreased NMN uptake, increased NMN affinity. Decreased choline uptake, increased choline affinity.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "10570053", "url": "https://glygen.org/publication/PubMed/10570053" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Decreased MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "10570053", "url": "https://glygen.org/publication/PubMed/10570053" } ] }, { "sequence_org": "D", "sequence_mut": "R", "comment": "Decreased MPP(+) uptake.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "10570053", "url": "https://glygen.org/publication/PubMed/10570053" } ] } ] }, { "uniprot_canonical_ac": "Q63089-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Thr550", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect of PKC-induced stimulation on ASP uptake. No effect of PKC-induced stimulation on ASP uptake; when associated with A-286; A-292; A-296; A-328. Significant increase of the ASP uptake by PKA activation. No effect of PKA activation on ASP uptake; when associated with A-286; A-292; A-296 and A-328. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition. Significant reduction of ASP uptake by p56(lck) tyrosine kinase-induced inhibition; when associated with A-286; A-292; A-296; A-328. No significant effect on trafficking from intracellular pools to the cell membrane; when associated with A-286; A-292; A-296 and A-328. suppresses phosphorylation by PKC; when associated with A-286; A-292; A-296 and A-328.", "evidence": [ { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprotkb/Q63089" }, { "database": "PubMed", "id": "15829703", "url": "https://glygen.org/publication/PubMed/15829703" } ] } ] } ], "record_id": "Q63089-1" }, { "uniprot_canonical_ac": "Q63262-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 497, "chemical_mass": 50226.0, "gene_names": "Pou3f3;Brn-1;Brn1;Rhs2", "protein_name": "POU domain, class 3, transcription factor 3", "disease": [], "biological_process": [ { "name": "cerebral cortex radially oriented cell migration", "id": "GO:0021799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021799", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "forebrain ventricular zone progenitor cell division", "id": "GO:0021869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021869", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "urea transmembrane transport", "id": "GO:0071918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071918", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "metanephric ascending thin limb development", "id": "GO:0072218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072218", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "chemical homeostasis", "id": "GO:0048878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048878", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "metanephric macula densa development", "id": "GO:0072227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072227", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "metanephric thick ascending limb development", "id": "GO:0072233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072233", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "metanephric loop of Henle development", "id": "GO:0072236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072236", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "metanephric DCT cell differentiation", "id": "GO:0072240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072240", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "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": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "HMG box domain binding", "id": "GO:0071837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071837", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q63262", "url": "https://www.uniprot.org/uniprotkb/Q63262" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q63262-1" }, { "uniprot_canonical_ac": "Q63372-2", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1530, "chemical_mass": 167923.0, "gene_names": "Nrxn1", "protein_name": "Neurexin-1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0111332", "name": "Pitt-Hopkins-like syndrome 2", "description": "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3.", "url": "https://disease-ontology.org/term/DOID:0111332", "evidence": [ { "id": "0111332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111332" } ], "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: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "slit diaphragm", "id": "GO:0036057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036057", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "protein complex involved in cell-cell adhesion", "id": "GO:0098635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098635", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "trans-synaptic protein complex", "id": "GO:0098820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098820", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" } ], "biological_process": [ { "name": "presynapse assembly", "id": "GO:0099054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099054", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid receptor clustering", "id": "GO:0097112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097112", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "protein-containing complex assembly involved in synapse maturation", "id": "GO:0090126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090126", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "synaptic vesicle clustering", "id": "GO:0097091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097091", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "gephyrin clustering involved in postsynaptic density assembly", "id": "GO:0097116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097116", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "guanylate kinase-associated protein clustering", "id": "GO:0097117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097117", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "postsynaptic membrane assembly", "id": "GO:0097104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097104", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "NMDA selective glutamate receptor signaling pathway", "id": "GO:0098989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098989", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q63372", "url": "https://www.uniprot.org/uniprotkb/Q63372" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": 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"database": "UniProtKB", "id": "Q63449", "url": "https://www.uniprot.org/uniprotkb/Q63449" } ], "pmid": "" } ], "molecular_function": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "Q63449", "url": "https://www.uniprot.org/uniprotkb/Q63449" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q63449", "url": "https://www.uniprot.org/uniprotkb/Q63449" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q63449", "url": "https://www.uniprot.org/uniprotkb/Q63449" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "specific granule membrane", "id": "GO:0035579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035579", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "tertiary granule membrane", "id": "GO:0070821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070821", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031630", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" } ], "molecular_function": [ { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q63666-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Ser63", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63666", "url": "https://www.uniprot.org/uniprotkb/Q63666" } ] } ] } ], "record_id": "Q63666-1" }, { "uniprot_canonical_ac": "Q63713-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 847, "chemical_mass": 96374.0, "gene_names": "Rasa2;GAP1M;Rasa2", "protein_name": "Ras GTPase-activating protein 2", "disease": [ { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "negative regulation of Ras protein signal transduction", "id": "GO:0046580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046580", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q63713-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Thr733", "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": 733, "start_aa": "Thr", "end_pos": 733, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr733", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "Q63713-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Ser554", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63713", "url": "https://www.uniprot.org/uniprotkb/Q63713" } ] } ] } ], "record_id": "Q63713-1" }, { "uniprot_canonical_ac": "Q63716-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 199, "chemical_mass": 22109.0, "gene_names": "Prdx1;Hbp23;Prdx1;Tdpx2", "protein_name": "Peroxiredoxin-1", "disease": [ { "disease_id": "DOID:0050715", "name": "methylmalonic aciduria and homocystinuria type cblC", "description": "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.", "url": "https://disease-ontology.org/term/DOID:0050715", "evidence": [ { "id": "0050715", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050715" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "euchromatin", "id": "GO:0000791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000791", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" } ], "biological_process": [ { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "removal of superoxide radicals", "id": "GO:0019430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019430", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "erythrocyte homeostasis", "id": "GO:0034101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034101", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "natural killer cell activation", "id": "GO:0030101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030101", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "regulation of stress-activated MAPK cascade", "id": "GO:0032872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032872", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "leukocyte activation", "id": "GO:0045321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045321", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "peroxiredoxin activity", "id": "GO:0051920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051920", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "thioredoxin peroxidase activity", "id": "GO:0008379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008379", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" }, { "name": "peroxidase activity", "id": "GO:0004601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004601", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": "https://www.uniprot.org/uniprotkb/Q63716" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q63716-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63716", "url": 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"database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "symmetric synapse", "id": "GO:0032280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032280", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of synaptic vesicle exocytosis", "id": "GO:2000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000302", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "basolateral protein secretion", "id": "GO:0110010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110010", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "sodium ion transmembrane transporter activity", "id": "GO:0015081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015081", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "sodium:bicarbonate symporter activity", "id": "GO:0008510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008510", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" }, { "name": "sodium,bicarbonate:chloride antiporter activity", "id": "GO:0140892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140892", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "646", "end_pos": "646", "site_lbl": "Asn646", "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": 646, "start_aa": "Asn", "end_pos": 646, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn646", "evidence": [ { "id": "Q6RVG2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2#ptm_processing" }, { "id": "34584093", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "666", "end_pos": "666", "site_lbl": "Asn666", "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": 666, "start_aa": "Asn", "end_pos": 666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn666", "evidence": [ { "id": "Q6RVG2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2#ptm_processing" }, { "id": "34584093", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "492", "end_pos": "492", "site_lbl": "Pro492", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "C", "comment": "60% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "496", "end_pos": "496", "site_lbl": "Phe496", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "536", "end_pos": "536", "site_lbl": "Gly536", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "20% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "538", "end_pos": "538", "site_lbl": "Thr538", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "60% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "539", "end_pos": "539", "site_lbl": "Gly539", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "540", "end_pos": "540", "site_lbl": "Pro540", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "608", "end_pos": "608", "site_lbl": "Glu608", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "612", "end_pos": "612", "site_lbl": "Lys612", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "800", "end_pos": "800", "site_lbl": "Asp800", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "804", "end_pos": "804", "site_lbl": "Thr804", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "20% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "845", "end_pos": "845", "site_lbl": "Ala845", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "846", "end_pos": "846", "site_lbl": "Ala846", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "847", "end_pos": "847", "site_lbl": "Thr847", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "60% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "848", "end_pos": "848", "site_lbl": "Val848", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "852", "end_pos": "852", "site_lbl": "Thr852", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "879", "end_pos": "879", "site_lbl": "Arg879", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "60% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "914", "end_pos": "914", "site_lbl": "Met914", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "C", "comment": "40% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] }, { "uniprot_canonical_ac": "Q6RVG2-2", "start_pos": "970", "end_pos": "970", "site_lbl": "Lys970", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "C", "comment": "60% of wild-type transporter activity. No effect on cell membrane localization.", "evidence": [ { "database": "UniProtKB", "id": "Q6RVG2", "url": "https://www.uniprot.org/uniprotkb/Q6RVG2" }, { "database": "PubMed", "id": "34584093", "url": "https://glygen.org/publication/PubMed/34584093" } ] } ] } ], "record_id": "Q6RVG2-2" }, { "uniprot_canonical_ac": "Q6SLE7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6SLE7", "url": "https://www.uniprot.org/uniprotkb/Q6SLE7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 31, "chemical_mass": 3808.0, "gene_names": "Sln;Sln", "protein_name": "Sarcolipin", "disease": [], "biological_process": [ { "name": "regulation of ATPase-coupled calcium transmembrane transporter activity", "id": "GO:1901894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901894", "evidence": [ { "database": "UniProtKB", "id": "Q6SLE7", "url": "https://www.uniprot.org/uniprotkb/Q6SLE7" 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regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "forebrain neuroblast division", "id": "GO:0021873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021873", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "apoptotic process involved in blood vessel 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differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "negative regulation of interleukin-4 production", "id": "GO:0032713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032713", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "odontoblast differentiation", "id": "GO:0071895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071895", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "trachea gland development", "id": "GO:0061153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061153", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling 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"protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation in bone marrow", "id": "GO:0071864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071864", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process in bone marrow cell", "id": "GO:0071866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071866", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "positive regulation of cell cycle process", "id": "GO:0090068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090068", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062009", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "negative regulation of interleukin-13 production", "id": "GO:0032696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032696", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "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": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding, bending", "id": "GO:0008301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008301", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "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": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9QXN1", "url": "https://www.uniprot.org/uniprotkb/Q9QXN1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": 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adhesion mediated by cadherin", "id": "GO:2000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000049", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "midgut development", "id": "GO:0007494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007494", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ 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"https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060028", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "non-canonical Wnt signaling pathway", "id": "GO:0035567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035567", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "convergent extension involved in organogenesis", "id": "GO:0060029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060029", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "negative regulation of prostatic bud formation", "id": "GO:0060686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060686", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "chemorepulsion of dopaminergic neuron axon", "id": "GO:0036518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036518", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "anterior/posterior axis 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dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "cervix development", "id": "GO:0060067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060067", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "response to quercetin", "id": "GO:1905235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905235", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "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": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "convergent extension", "id": "GO:0060026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060026", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { 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"Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "regulation of postsynaptic specialization assembly", "id": "GO:0099150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099150", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "regulation of synaptic signaling by nitric oxide", "id": "GO:0150045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150045", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QXQ7", "url": "https://www.uniprot.org/uniprotkb/Q9QXQ7" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { 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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 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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: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. 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"id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "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": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "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": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "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": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "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": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010803", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "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": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": 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valve development", "id": "GO:0003176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003176", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "positive regulation of macromolecule biosynthetic process", "id": "GO:0010557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010557", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P22934", "url": "https://www.uniprot.org/uniprotkb/P22934" } ], "pmid": "" 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