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"https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "nuclear vitamin D receptor binding", "id": "GO:0042809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042809", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "general transcription initiation factor binding", "id": "GO:0140296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140296", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of hepatocyte proliferation", "id": "GO:2000347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000347", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": 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hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "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": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "mammary gland branching involved in thelarche", "id": "GO:0060744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060744", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in mammary gland duct elongation", "id": "GO:0060750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060750", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "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": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": 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"database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "cellular response to hepatocyte growth factor stimulus", "id": "GO:0035729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035729", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "nuclear receptor-mediated steroid hormone signaling pathway", "id": "GO:0030518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030518", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "thyroid hormone receptor signaling pathway", "id": "GO:0002154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002154", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "enucleate erythrocyte development", "id": "GO:0048822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048822", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "regulation of vitamin D receptor signaling pathway", "id": "GO:0070562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070562", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "positive regulation of type II interferon-mediated signaling pathway", "id": "GO:0060335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060335", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN2", "url": "https://www.uniprot.org/uniprotkb/D3ZRN2" } ], "pmid": "" }, { 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"protein_name": "Protein kish", "disease": [], "biological_process": [ { "name": "constitutive secretory pathway", "id": "GO:0045054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045054", "evidence": [ { "database": "UniProtKB", "id": "D3ZSX4", "url": "https://www.uniprot.org/uniprotkb/D3ZSX4" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "D3ZSX4", "url": "https://www.uniprot.org/uniprotkb/D3ZSX4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "D3ZSX4", "url": "https://www.uniprot.org/uniprotkb/D3ZSX4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZSX4-1" }, { "uniprot_canonical_ac": "D3ZT70-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZT70", "url": "https://www.uniprot.org/uniprotkb/D3ZT70" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 298, "chemical_mass": 34051.0, "gene_names": "C15h8orf74;C15h8orf74;RGD1565212", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZT70-1" }, { "uniprot_canonical_ac": "D3ZT83-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 570, "chemical_mass": 61340.0, "gene_names": "Slc1a7;Slc1a7", "protein_name": "Amino acid transporter", "disease": [ { "disease_id": "DOID:0050994", "name": "episodic ataxia type 6", "description": "An episodic ataxia that is characterized by nystagmus and dysarthria, and 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"name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "neurotransmitter uptake", "id": "GO:0001504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001504", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" } ], "molecular_function": [ { "name": "monoatomic anion transmembrane transporter activity", "id": "GO:0008509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008509", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "neutral L-amino acid transmembrane transporter activity", "id": "GO:0015175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015175", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "glutamate:sodium symporter activity", "id": "GO:0015501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015501", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "extracellularly glutamate-gated chloride channel activity", "id": "GO:0008068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008068", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transporter activity", "id": "GO:0005313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005313", "evidence": [ { "database": "UniProtKB", "id": "D3ZT83", "url": "https://www.uniprot.org/uniprotkb/D3ZT83" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZT83-1" }, { "uniprot_canonical_ac": "D3ZTE7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZTE7", "url": "https://www.uniprot.org/uniprotkb/D3ZTE7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1212, "chemical_mass": 135125.0, "gene_names": "Adamts2;Adamts2;RGD1565950", "protein_name": "", "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": 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"https://www.uniprot.org/uniprotkb/D3ZTE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D3ZTE7-1", "start_pos": "1128", "end_pos": "1128", "site_lbl": "Thr1128", "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": 1128, "start_aa": "Thr", "end_pos": 1128, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1128", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "D3ZTE7-1" }, { "uniprot_canonical_ac": "D3ZTE9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZTE9", "url": 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"https://www.uniprot.org/uniprotkb/D3ZTE9" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "D3ZTE9", "url": "https://www.uniprot.org/uniprotkb/D3ZTE9" } ], "pmid": "" }, { "name": "chylomicron assembly", "id": "GO:0034378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034378", "evidence": [ { "database": "UniProtKB", "id": "D3ZTE9", "url": "https://www.uniprot.org/uniprotkb/D3ZTE9" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "D3ZTE9", "url": "https://www.uniprot.org/uniprotkb/D3ZTE9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": 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"name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "D3ZUG8", "url": "https://www.uniprot.org/uniprotkb/D3ZUG8" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "D3ZUG8", "url": "https://www.uniprot.org/uniprotkb/D3ZUG8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZUG8-1" }, { "uniprot_canonical_ac": "D3ZUM4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZUM4", "url": "https://www.uniprot.org/uniprotkb/D3ZUM4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 647, "chemical_mass": 73228.0, "gene_names": "Glb1;Glb1", "protein_name": "Beta-galactosidase", "disease": [ { "disease_id": 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} ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZUR5", "url": "https://www.uniprot.org/uniprotkb/D3ZUR5" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "D3ZUR5", "url": "https://www.uniprot.org/uniprotkb/D3ZUR5" } ], "pmid": "" } ], "biological_process": [ { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "D3ZUR5", "url": "https://www.uniprot.org/uniprotkb/D3ZUR5" } ], "pmid": "" }, { "name": "keratinocyte proliferation", "id": "GO:0043616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043616", "evidence": [ { "database": "UniProtKB", "id": "D3ZUR5", "url": "https://www.uniprot.org/uniprotkb/D3ZUR5" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor activity", "id": "GO:0099601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099601", "evidence": [ { "database": "UniProtKB", "id": "D3ZUR5", "url": "https://www.uniprot.org/uniprotkb/D3ZUR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZUR5-1" }, { "uniprot_canonical_ac": "D3ZV32-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 790, "chemical_mass": 86900.0, "gene_names": "Slc26a9;Slc26a9", "protein_name": "", "disease": [ { "disease_id": "DOID:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": 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"url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "monoatomic anion transport", "id": "GO:0006820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006820", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "regulation of pH", "id": "GO:0006885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006885", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "D3ZV32", "url": "https://www.uniprot.org/uniprotkb/D3ZV32" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZV32-1" }, { "uniprot_canonical_ac": "D3ZV34-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZV34", "url": "https://www.uniprot.org/uniprotkb/D3ZV34" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 309, "chemical_mass": 35010.0, "gene_names": "Or6c8;OR6c8;Olr878;Or6c8", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "D3ZV34", "url": "https://www.uniprot.org/uniprotkb/D3ZV34" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "D3ZV34", "url": "https://www.uniprot.org/uniprotkb/D3ZV34" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZV34", "url": "https://www.uniprot.org/uniprotkb/D3ZV34" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZV34-1" }, { "uniprot_canonical_ac": "D3ZV88-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 333, "chemical_mass": 36134.0, "gene_names": "Zfp444;Zfp444;Znf444", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "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": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "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": "D3ZV88", "url": "https://www.uniprot.org/uniprotkb/D3ZV88" } ], "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": "D3ZV88", "url": 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that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.", "url": "https://disease-ontology.org/term/DOID:0060649", "evidence": [ { "id": "0060649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060649" } ], "weight": 0.0 }, { "disease_id": "DOID:0111620", "name": "corneal dystrophy-perceptive deafness syndrome", "description": "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:0111620", "evidence": [ { "id": "0111620", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071476", "evidence": [ { "database": "UniProtKB", "id": "D3ZVP9", "url": "https://www.uniprot.org/uniprotkb/D3ZVP9" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "D3ZVP9", "url": "https://www.uniprot.org/uniprotkb/D3ZVP9" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "D3ZVP9", "url": "https://www.uniprot.org/uniprotkb/D3ZVP9" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "D3ZVP9", "url": "https://www.uniprot.org/uniprotkb/D3ZVP9" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": 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"D4A0F4", "url": "https://www.uniprot.org/uniprotkb/D4A0F4" } ], "pmid": "" } ], "biological_process": [ { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "D4A0F4", "url": "https://www.uniprot.org/uniprotkb/D4A0F4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A0F4-1" }, { "uniprot_canonical_ac": "D4A0J0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A0J0", "url": "https://www.uniprot.org/uniprotkb/D4A0J0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 400, "chemical_mass": 45064.0, "gene_names": "Wdfy2;Wdfy2", "protein_name": "", "disease": [], "biological_process": [ { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", 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"evidence": [ { "database": "UniProtKB", "id": "D4A0J7", "url": "https://www.uniprot.org/uniprotkb/D4A0J7" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "D4A0J7", "url": "https://www.uniprot.org/uniprotkb/D4A0J7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A0J7-1" }, { "uniprot_canonical_ac": "D4A0T0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A0T0", "url": "https://www.uniprot.org/uniprotkb/D4A0T0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 176, "chemical_mass": 20859.0, "gene_names": "Ndufb10;Ndufb10", "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10", "disease": [ { "disease_id": "DOID:0112139", "name": "nuclear type mitochondrial 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"GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "D4A0T0", "url": "https://www.uniprot.org/uniprotkb/D4A0T0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D4A0T0-1", "start_pos": "151", "end_pos": "151", "site_lbl": "Ser151", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 151, "start_aa": "Ser", "end_pos": 151, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser151", "evidence": [ { "id": "27213235", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27213235" }, { "id": "D4A0T0", "database": "O-GlcNAc Database", "url": 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bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": 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"https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "insulin-responsive compartment", "id": "GO:0032593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032593", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" } ], "biological_process": [ { "name": "atrioventricular valve development", "id": "GO:0003171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003171", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of lipid transport", "id": "GO:0032370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032370", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of lysosomal protein catabolic process", "id": "GO:1905167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905167", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor-beta signaling pathway", "id": "GO:2000587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000587", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of cholesterol import", "id": "GO:1904109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904109", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "astrocyte activation involved in immune response", "id": "GO:0002265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002265", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "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": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", 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"id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "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": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "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": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "regulation of extracellular matrix organization", "id": "GO:1903053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903053", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "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": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell migration", "id": "GO:0014912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014912", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "lysosomal transport", "id": "GO:0007041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007041", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of protein transport", "id": "GO:0051222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051222", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of axon extension involved in regeneration", "id": "GO:0048691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048691", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "chemoattraction of axon", "id": "GO:0061642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061642", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "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": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of collateral sprouting of injured axon", "id": "GO:0048694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048694", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "negative regulation of thrombin-activated receptor signaling pathway", "id": "GO:0070495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070495", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "positive regulation of transcytosis", "id": "GO:1904300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904300", "evidence": [ { "database": "UniProtKB", "id": "G3V928", "url": "https://www.uniprot.org/uniprotkb/G3V928" } ], "pmid": "" }, { "name": "amyloid-beta clearance by transcytosis", "id": "GO:0150093", "url": 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"GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70490", "url": "https://www.uniprot.org/uniprotkb/O70490" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O70490", "url": "https://www.uniprot.org/uniprotkb/O70490" } ], "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": "O70490", "url": "https://www.uniprot.org/uniprotkb/O70490" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "O70490", "url": "https://www.uniprot.org/uniprotkb/O70490" } ], "pmid": "" }, { "name": "medium-chain fatty-acyl-CoA metabolic 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"disease": [ { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "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:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0070214", "name": "familial hyperinsulinemic hypoglycemia 7", "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2.", "url": "https://disease-ontology.org/term/DOID:0070214", "evidence": [ { "id": "0070214", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070214" } ], "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" } ], 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"disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "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:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "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:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "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:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "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": "lactate transmembrane transport", "id": "GO:0035873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035873", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "monocarboxylic acid transport", "id": "GO:0015718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015718", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "behavioral response to nutrient", "id": "GO:0051780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051780", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "pyruvate transmembrane transport", "id": "GO:1901475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901475", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "succinate transmembrane transport", "id": "GO:0071422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071422", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "plasma membrane lactate transport", "id": "GO:0035879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035879", "evidence": [ { "database": "UniProtKB", "id": "P53987", "url": "https://www.uniprot.org/uniprotkb/P53987" } ], "pmid": "" }, { "name": "carboxylic acid transmembrane transport", "id": 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"disease_id": "DOID:0111089", "name": "Fanconi anemia complementation group D1", "description": "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.", "url": "https://disease-ontology.org/term/DOID:0111089", "evidence": [ { "id": "0111089", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111089" } ], "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:11994", "name": "atrophy of testis", "description": "", "url": "https://disease-ontology.org/term/DOID:11994", "evidence": [ { "id": "11994", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11994" } ], 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"database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "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": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "establishment of protein localization to telomere", "id": "GO:0070200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070200", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "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": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "oocyte maturation", "id": "GO:0001556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001556", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "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": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "replication fork processing", "id": "GO:0031297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031297", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "response to UV-C", "id": "GO:0010225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010225", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "chordate embryonic development", "id": "GO:0043009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043009", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "telomere maintenance via recombination", "id": "GO:0000722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000722", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "inner cell mass cell proliferation", "id": "GO:0001833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001833", "evidence": [ { "database": "UniProtKB", "id": "O35923", "url": "https://www.uniprot.org/uniprotkb/O35923" } ], "pmid": "" }, { "name": "negative regulation of mammary gland epithelial cell proliferation", "id": "GO:0033600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033600", "evidence": [ { 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dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:1002", "name": "endometritis", "description": "An endometrial disease that is characterized by inflammation of the endometrium.", "url": "https://disease-ontology.org/term/DOID:1002", "evidence": [ { "id": "1002", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1002" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "death domain binding", "id": "GO:0070513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070513", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activity", "id": "GO:0004197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004197", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to indole-3-methanol", "id": "GO:0071680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071680", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "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": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to auditory stimulus", "id": "GO:0010996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010996", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "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": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to cobalt ion", "id": "GO:0032025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032025", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "glial cell apoptotic process", "id": "GO:0034349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034349", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "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": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "leukocyte apoptotic process", "id": "GO:0071887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071887", "evidence": [ { "database": "UniProtKB", "id": "Q9JHK1", "url": "https://www.uniprot.org/uniprotkb/Q9JHK1" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": 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], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 411, "chemical_mass": 45473.0, "gene_names": "Ihh;Ihh", "protein_name": "Hedgehog protein", "disease": [ { "disease_id": "DOID:0050338", "name": "primary bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread.", "url": "https://disease-ontology.org/term/DOID:0050338", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ], "weight": 0.0 }, { "disease_id": "DOID:0050424", "name": "familial adenomatous polyposis", "description": "An intestinal disease that is characterized by predisposition to colon cancer.", "url": "https://disease-ontology.org/term/DOID:0050424", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "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": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "chondrocyte proliferation", "id": "GO:0035988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035988", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "embryonic skeletal joint development", "id": "GO:0072498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072498", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "chondrocyte differentiation involved in endochondral bone morphogenesis", "id": "GO:0003413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003413", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "proteoglycan metabolic process", "id": "GO:0006029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006029", "evidence": [ { "database": "UniProtKB", "id": "F1LP42", "url": "https://www.uniprot.org/uniprotkb/F1LP42" } ], "pmid": "" }, { "name": "camera-type eye development", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid metabolic process", "id": "GO:0006520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006520", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" }, { "name": "L-phenylalanine catabolic process", "id": "GO:0006559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006559", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" }, { "name": "L-tyrosine catabolic process", "id": "GO:0006572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006572", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" }, { "name": "tyrosine metabolic process", "id": "GO:0006570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006570", "evidence": [ { "database": "UniProtKB", "id": "G3V6C2", "url": "https://www.uniprot.org/uniprotkb/G3V6C2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6C2-1" }, { "uniprot_canonical_ac": "G3V6N5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V6N5", "url": "https://www.uniprot.org/uniprotkb/G3V6N5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 202, "chemical_mass": 22767.0, "gene_names": "Slc66a3;Pqlc3;RGD1306818;Slc66a3", "protein_name": "Solute carrier family 66 member 3", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. 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"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: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: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:684", "name": "hepatocellular 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protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z2", "url": "https://www.uniprot.org/uniprotkb/G3V6Z2" } ], "pmid": "" }, { "name": "ankyrin binding", "id": "GO:0030506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030506", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z2", "url": "https://www.uniprot.org/uniprotkb/G3V6Z2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6Z2-1" }, { "uniprot_canonical_ac": "G3V727-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 457, "chemical_mass": 50989.0, "gene_names": "Ddx47", "protein_name": "Probable ATP-dependent RNA helicase DDX47", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "RNA helicase activity", "id": "GO:0003724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003724", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" } ], "biological_process": [ { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "G3V727", "url": "https://www.uniprot.org/uniprotkb/G3V727" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": 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"url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" } ], "molecular_function": [ { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "G3V7U3", "url": "https://www.uniprot.org/uniprotkb/G3V7U3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V7U3-1" }, { "uniprot_canonical_ac": "G3V7Y8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 198, "chemical_mass": 24004.0, "gene_names": "Aicda;Aicda;aicda;aid", "protein_name": "Single-stranded DNA cytosine deaminase", "disease": [ { "disease_id": "DOID:0050211", "name": "swine influenza", "description": "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.", "url": "https://disease-ontology.org/term/DOID:0050211", "evidence": [ { "id": "0050211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050211" } ], "weight": 0.0 }, { "disease_id": "DOID:0060758", "name": "immunodeficiency with hyper-IgM type 2", "description": "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0060758", "evidence": [ { "id": "0060758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060758" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "weight": 0.0 }, { "disease_id": "DOID:2959", "name": "hyperimmunoglobulin syndrome", "description": "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.", "url": "https://disease-ontology.org/term/DOID:2959", "evidence": [ { "id": "2959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2959" } ], "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: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": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "cytidine deaminase activity", "id": "GO:0004126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004126", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "cytidine to uridine editing", "id": "GO:0016554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016554", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "DNA cytosine deamination", "id": "GO:0070383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070383", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "id": "GO:0045869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045869", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "somatic diversification of immunoglobulins", "id": "GO:0016445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016445", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "regulation of nuclear cell cycle DNA replication", "id": "GO:0033262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033262", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "positive regulation of gene expression via chromosomal CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "somatic hypermutation of immunoglobulin genes", "id": "GO:0016446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016446", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "G3V7Y8", "url": "https://www.uniprot.org/uniprotkb/G3V7Y8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V7Y8-1" }, { "uniprot_canonical_ac": "G3V815-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 342, "chemical_mass": 38197.0, "gene_names": "Hoxc10;Hoxc10", "protein_name": "Homeobox protein Hox-C10", "disease": [], "biological_process": [ { "name": "spinal cord motor neuron cell fate specification", "id": "GO:0021520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021520", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" } ], "molecular_function": [ { "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "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": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "G3V815", "url": "https://www.uniprot.org/uniprotkb/G3V815" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V815-1" }, { "uniprot_canonical_ac": "G3V830-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V830", "url": "https://www.uniprot.org/uniprotkb/G3V830" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 567, "chemical_mass": 63285.0, "gene_names": "Il10ra", "protein_name": "Interleukin-10 receptor subunit alpha", "disease": [ { "disease_id": "DOID:0110899", "name": "inflammatory bowel disease 28", "description": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0110899", "evidence": [ { "id": "0110899", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110899" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "interleukin-10 binding", "id": "GO:0019969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019969", "evidence": [ { "database": "UniProtKB", "id": "G3V830", "url": "https://www.uniprot.org/uniprotkb/G3V830" } ], "pmid": "" }, { "name": "interleukin-10 receptor activity", "id": "GO:0004920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004920", "evidence": [ { "database": "UniProtKB", "id": "G3V830", "url": "https://www.uniprot.org/uniprotkb/G3V830" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": 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"pmid": "" }, { "name": "cellular response to butyrate", "id": "GO:1903545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903545", "evidence": [ { "database": "UniProtKB", "id": "G3V8S9", "url": "https://www.uniprot.org/uniprotkb/G3V8S9" } ], "pmid": "" }, { "name": "positive regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071642", "evidence": [ { "database": "UniProtKB", "id": "G3V8S9", "url": "https://www.uniprot.org/uniprotkb/G3V8S9" } ], "pmid": "" }, { "name": "prostaglandin production involved in inflammatory response", "id": "GO:0002539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002539", "evidence": [ { "database": "UniProtKB", "id": "G3V8S9", "url": "https://www.uniprot.org/uniprotkb/G3V8S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", 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"evidence": [ { "database": "UniProtKB", "id": "G3V8W9", "url": "https://www.uniprot.org/uniprotkb/G3V8W9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 157, "chemical_mass": 17536.0, "gene_names": "Tstd3;Tstd3", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V8W9-1" }, { "uniprot_canonical_ac": "G3V906-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V906", "url": "https://www.uniprot.org/uniprotkb/G3V906" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 351, "chemical_mass": 39962.0, "gene_names": "Hcar1;Gpr81;Hcar1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "G3V906", "url": "https://www.uniprot.org/uniprotkb/G3V906" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "G3V906", "url": "https://www.uniprot.org/uniprotkb/G3V906" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V906-1" }, { "uniprot_canonical_ac": "G3V9A0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V9A0", "url": "https://www.uniprot.org/uniprotkb/G3V9A0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1346, "chemical_mass": 144300.0, "gene_names": "Plekhg2", "protein_name": "", "disease": [], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor 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"binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3V9A0-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Thr443", "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": 443, "start_aa": "Thr", "end_pos": 443, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr443", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "G3V9A0-1" }, { "uniprot_canonical_ac": "G3V9M1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V9M1", "url": "https://www.uniprot.org/uniprotkb/G3V9M1" } ], "common_name": "Rat", "glygen_name": "Rat", 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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: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:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": 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"GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "embryonic eye morphogenesis", "id": "GO:0048048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048048", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "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": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "sequestering of BMP in extracellular matrix", "id": "GO:0035582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035582", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "post-embryonic eye morphogenesis", "id": "GO:0048050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048050", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "negative regulation of osteoclast development", "id": "GO:2001205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001205", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "cellular response to insulin-like 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"GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "G3V9M6", "url": "https://www.uniprot.org/uniprotkb/G3V9M6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V9M6-1" }, { "uniprot_canonical_ac": "G3V9M8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V9M8", "url": "https://www.uniprot.org/uniprotkb/G3V9M8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 339, "chemical_mass": 40210.0, "gene_names": "Fam50a;Fam50a;RGD1560964", "protein_name": "", "disease": [ { "disease_id": "DOID:0050764", "name": "Armfield syndrome", "description": "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.", "url": "https://disease-ontology.org/term/DOID:0050764", "evidence": [ { "id": "0050764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050764" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V9M8", "url": "https://www.uniprot.org/uniprotkb/G3V9M8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V9M8", "url": "https://www.uniprot.org/uniprotkb/G3V9M8" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "G3V9M8", "url": "https://www.uniprot.org/uniprotkb/G3V9M8" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "G3V9M8", "url": "https://www.uniprot.org/uniprotkb/G3V9M8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V9M8-1" }, { "uniprot_canonical_ac": "G3V9Y6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V9Y6", "url": "https://www.uniprot.org/uniprotkb/G3V9Y6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1481, "chemical_mass": 163797.0, "gene_names": "Nphp4", "protein_name": "", "disease": [ { "disease_id": "DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.", "url": "https://disease-ontology.org/term/DOID:0050576", "evidence": [ { "id": "0050576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050576" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation 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"evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "positive regulation of eosinophil migration", "id": "GO:2000418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000418", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "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": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" }, { "name": "CCR3 chemokine receptor binding", "id": "GO:0031728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031728", "evidence": [ { "database": "UniProtKB", "id": "Q5PPP2", "url": "https://www.uniprot.org/uniprotkb/Q5PPP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5PPP2-1" }, { "uniprot_canonical_ac": "Q5U302-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 922, "chemical_mass": 101955.0, "gene_names": "Ctnna1", "protein_name": "Catenin alpha-1", "disease": [ { "disease_id": "DOID:0060864", "name": "patterned macular dystrophy 2", "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0060864", "evidence": [ { "id": "0060864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060864" } ], "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: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: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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "apical junction assembly", "id": "GO:0043297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043297", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "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": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "negative regulation of cell motility", "id": "GO:2000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000146", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "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": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "negative regulation of integrin-mediated signaling pathway", "id": "GO:2001045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001045", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cellular response to indole-3-methanol", "id": "GO:0071681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071681", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "epithelial cell-cell adhesion", "id": "GO:0090136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090136", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "gap junction assembly", "id": "GO:0016264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016264", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q5U302", "url": "https://www.uniprot.org/uniprotkb/Q5U302" } ], "pmid": "" }, { "name": "catenin complex", "id": "GO:0016342", "url": 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"" }, { "name": "midbrain dopaminergic neuron differentiation", "id": "GO:1904948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904948", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF9", "url": "https://www.uniprot.org/uniprotkb/Q8VHF9" } ], "pmid": "" }, { "name": "mammary gland epithelium development", "id": "GO:0061180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061180", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF9", "url": "https://www.uniprot.org/uniprotkb/Q8VHF9" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF9", "url": "https://www.uniprot.org/uniprotkb/Q8VHF9" } ], "pmid": "" }, { "name": "frizzled binding", "id": "GO:0005109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005109", "evidence": [ { "database": "UniProtKB", "id": "Q8VHF9", "url": "https://www.uniprot.org/uniprotkb/Q8VHF9" } 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"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": 175, "start_aa": "Thr", "end_pos": 175, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr175", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "Q925A6-1" }, { "uniprot_canonical_ac": "Q99JD1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q99JD1", "url": "https://www.uniprot.org/uniprotkb/Q99JD1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 111, "chemical_mass": 11025.0, "gene_names": "Defb22;2D6glycoprotein;Defb22", "protein_name": "Beta-defensin", "disease": [], "cellular_component": [ { "name": "glycocalyx", "id": 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peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q99JD1", "url": "https://www.uniprot.org/uniprotkb/Q99JD1" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q99JD1", "url": "https://www.uniprot.org/uniprotkb/Q99JD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99JD1-1" }, { "uniprot_canonical_ac": "Q9WTQ9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 299, "chemical_mass": 32381.0, "gene_names": "Crx;Crx", "protein_name": "Cone-rod homeobox protein", "disease": [ { "disease_id": "DOID:0110333", "name": "Leber congenital amaurosis 7", "description": "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110333", "evidence": [ { "id": "0110333", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110333" } ], "weight": 0.0 }, { "disease_id": "DOID:0111005", "name": "cone-rod dystrophy 2", "description": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0111005", "evidence": [ { "id": "0111005", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111005" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of photoreceptor cell differentiation", "id": "GO:0046534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046534", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "leucine zipper domain binding", "id": "GO:0043522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043522", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "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": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9WTQ9", "url": "https://www.uniprot.org/uniprotkb/Q9WTQ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9WTQ9-1" }, { "uniprot_canonical_ac": "A0A096MJE4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 223, "chemical_mass": 24898.0, "gene_names": "Ctla4", "protein_name": "Cytotoxic T-lymphocyte protein 4", "disease": [ { "disease_id": "DOID:0060025", "name": "immunoglobulin alpha deficiency", "description": "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.", "url": "https://disease-ontology.org/term/DOID:0060025", "evidence": [ { "id": "0060025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060025" } ], "weight": 0.0 }, { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "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:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080846", "name": "latent autoimmune diabetes in adults", "description": "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable -cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:0080846", "evidence": [ { "id": "0080846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080846" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "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: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: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: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: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:718", "name": "autoimmune hemolytic anemia", "description": "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies.", "url": "https://disease-ontology.org/term/DOID:718", "evidence": [ { "id": "718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:718" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:7442", "name": "monoclonal gammopathy of uncertain significance", "description": "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.", "url": "https://disease-ontology.org/term/DOID:7442", "evidence": [ { "id": "7442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7442" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9383", "name": "iridocyclitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9383", "evidence": [ { "id": "9383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9383" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle", "id": "GO:0045334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045334", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "protein complex involved in cell adhesion", "id": "GO:0098636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098636", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "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": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "negative regulation of regulatory T cell differentiation", "id": "GO:0045590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045590", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" } ], "molecular_function": [ { "name": "receptor decoy activity", "id": "GO:0140319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140319", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJE4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJE4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A096MJE4-1" }, { "uniprot_canonical_ac": "A0A096MJZ8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A096MJZ8", "url": "https://www.uniprot.org/uniprotkb/A0A096MJZ8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1690, "chemical_mass": 192027.0, "gene_names": "Kdm5a;Jarid1a;Kdm5a", "protein_name": "Lysine-specific demethylase 5A", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": 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formation", "id": "GO:0003193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003193", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "foramen ovale closure", "id": "GO:0035922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035922", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "cardiac right ventricle morphogenesis", "id": "GO:0003215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003215", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "cardiac septum development", "id": "GO:0003279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003279", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "atrial septum morphogenesis", "id": "GO:0060413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060413", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "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": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "cardiac chamber formation", "id": "GO:0003207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003207", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2KAH3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2KAH3" } ], "pmid": "" }, { "name": "aortic valve development", "id": "GO:0003176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003176", "evidence": [ { "database": 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"DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "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": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "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": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, 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"https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "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": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "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": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "cellular response to erythropoietin", "id": "GO:0036018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036018", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "response to bisphenol A", "id": "GO:1903925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903925", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II sequence-specific DNA-binding transcription factor recruiting activity", "id": "GO:0001010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001010", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "D3ZS29", "url": "https://www.uniprot.org/uniprotkb/D3ZS29" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": 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"pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D4A704", "url": "https://www.uniprot.org/uniprotkb/D4A704" } ], "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": "D4A704", "url": "https://www.uniprot.org/uniprotkb/D4A704" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D4A704", "url": "https://www.uniprot.org/uniprotkb/D4A704" } ], "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": [ { 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"https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "regulation of cortisol biosynthetic process", "id": "GO:2000064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000064", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" } ], "molecular_function": [ { "name": "6-phosphogluconolactonase activity", "id": "GO:0017057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017057", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "glucose 1-dehydrogenase [NAD(P)+] activity", "id": "GO:0047936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047936", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "D4A7D7", "url": "https://www.uniprot.org/uniprotkb/D4A7D7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A7D7-1" }, { "uniprot_canonical_ac": "D4A7F1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A7F1", "url": "https://www.uniprot.org/uniprotkb/D4A7F1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 281, "chemical_mass": 30200.0, 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"name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "pmid": "" }, { "name": "hydro-lyase activity", "id": "GO:0016836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016836", "evidence": [ { "database": "UniProtKB", "id": "D4A820", "url": "https://www.uniprot.org/uniprotkb/D4A820" } ], "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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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:0110934", "name": "nemaline myopathy 7", "description": "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.", "url": "https://disease-ontology.org/term/DOID:0110934", "evidence": [ { "id": "0110934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110934" } ], "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 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "actin filament severing", "id": "GO:0051014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051014", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "actin filament depolymerization", "id": "GO:0030042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030042", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "actin filament fragmentation", "id": "GO:0030043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030043", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" }, { "name": "positive regulation of actin filament depolymerization", "id": "GO:0030836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030836", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "M0RC65", "url": "https://www.uniprot.org/uniprotkb/M0RC65" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M0RC65-1" }, { "uniprot_canonical_ac": "Q5XII4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5XII4", "url": "https://www.uniprot.org/uniprotkb/Q5XII4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 219, "chemical_mass": 24773.0, "gene_names": "Slx9;Fam207a;RGD1311257;Slx9", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q5XII4", "url": "https://www.uniprot.org/uniprotkb/Q5XII4" } ], "pmid": "" }, { "name": "preribosome, small subunit precursor", "id": "GO:0030688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030688", "evidence": [ { "database": "UniProtKB", "id": "Q5XII4", "url": "https://www.uniprot.org/uniprotkb/Q5XII4" } ], "pmid": "" }, { "name": "90S preribosome", "id": "GO:0030686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030686", "evidence": [ { "database": "UniProtKB", "id": "Q5XII4", "url": "https://www.uniprot.org/uniprotkb/Q5XII4" } ], "pmid": "" } ], "biological_process": [ { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "Q5XII4", "url": "https://www.uniprot.org/uniprotkb/Q5XII4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5XII4-1" }, { "uniprot_canonical_ac": "Q6TXI7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6TXI7", "url": "https://www.uniprot.org/uniprotkb/Q6TXI7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 615, "chemical_mass": 68877.0, "gene_names": "LOC134486093;LOC134486093", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6TXI7", "url": "https://www.uniprot.org/uniprotkb/Q6TXI7" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q6TXI7", "url": "https://www.uniprot.org/uniprotkb/Q6TXI7" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "Q6TXI7", "url": "https://www.uniprot.org/uniprotkb/Q6TXI7" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q6TXI7", "url": "https://www.uniprot.org/uniprotkb/Q6TXI7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6TXI7-1" }, { "uniprot_canonical_ac": "O54814-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O54814", "url": "https://www.uniprot.org/uniprotkb/O54814" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 359, "chemical_mass": 41643.0, "gene_names": "Ccr3;Ccr3;Cmkbr3", "protein_name": "C-C chemokine receptor type 3", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050169", "name": "cutaneous lupus erythematosus", "description": "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.", "url": "https://disease-ontology.org/term/DOID:0050169", "evidence": [ { "id": "0050169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050169" } ], "weight": 0.0 }, { "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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "chemokine receptor activity", "id": "GO:0004950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004950", "evidence": [ { "database": "UniProtKB", "id": "O54814", "url": "https://www.uniprot.org/uniprotkb/O54814" } ], "pmid": "" }, { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "O54814", "url": "https://www.uniprot.org/uniprotkb/O54814" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "O54814", "url": "https://www.uniprot.org/uniprotkb/O54814" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O54814", "url": "https://www.uniprot.org/uniprotkb/O54814" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"Slc22a21;Slc22a5;CT1;LOC303140;OCTN2;Octn2;Slc22a5;UST2r", "protein_name": "Organic cation/carnitine transporter 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:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0060253", "name": "scapuloperoneal myopathy", "description": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.", "url": "https://disease-ontology.org/term/DOID:0060253", "evidence": [ { "id": "0060253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060253" } ], "weight": 0.0 }, { "disease_id": "DOID:0070251", "name": "X-linked Emery-Dreifuss muscular dystrophy 6", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0070251", "evidence": [ { "id": "0070251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070251" } ], "weight": 0.0 }, { "disease_id": "DOID:0080090", "name": "reducing body myopathy 1A", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080687", "name": "reducing body myopathy 1B", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.", "url": "https://disease-ontology.org/term/DOID:0080687", "evidence": [ { "id": "0080687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080687" } ], "weight": 0.0 }, { "disease_id": "DOID:0112148", "name": "Uruguay faciocardiomusculoskeletal syndrome", "description": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0112148", "evidence": [ { "id": "0112148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112148" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:14365", "name": "systemic primary carnitine deficiency disease", "description": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.", "url": "https://disease-ontology.org/term/DOID:14365", "evidence": [ { "id": "14365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14365" } ], "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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "D4A2Z8", "url": "https://www.uniprot.org/uniprotkb/D4A2Z8" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "D4A2Z8", "url": "https://www.uniprot.org/uniprotkb/D4A2Z8" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "D4A2Z8", "url": "https://www.uniprot.org/uniprotkb/D4A2Z8" } ], "pmid": "" }, { "name": "telomerase RNA stabilization", "id": "GO:0090669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090669", "evidence": [ { "database": "UniProtKB", "id": "D4A2Z8", "url": "https://www.uniprot.org/uniprotkb/D4A2Z8" } ], 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behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "weight": 0.0 }, { "disease_id": "DOID:0070281", "name": "primary autosomal recessive microcephaly 19", "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.", "url": "https://disease-ontology.org/term/DOID:0070281", "evidence": [ { "id": "0070281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070281" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "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:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0110019", "name": "age related macular degeneration 7", "description": "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0110019", "evidence": [ { "id": "0110019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110019" } ], "weight": 0.0 }, { "disease_id": "DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110021", "evidence": [ { "id": "0110021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110021" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11555", "name": "Fuchs' endothelial dystrophy", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "url": "https://disease-ontology.org/term/DOID:11555", "evidence": [ { "id": "11555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11555" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14095", "name": "boutonneuse fever", "description": "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.", "url": "https://disease-ontology.org/term/DOID:14095", "evidence": [ { "id": "14095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14095" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:5162", "name": "arteriolosclerosis", "description": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.", "url": "https://disease-ontology.org/term/DOID:5162", "evidence": [ { "id": "5162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5162" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "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:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.", "url": "https://disease-ontology.org/term/DOID:8354", "evidence": [ { "id": "8354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8354" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "innervation", "id": "GO:0060384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060384", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "vascular associated smooth muscle cell differentiation", "id": "GO:0035886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035886", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement receptor mediated signaling pathway", "id": "GO:0002430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002430", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "neuron remodeling", "id": "GO:0016322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016322", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "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": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "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": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of developmental growth", "id": "GO:0048639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048639", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement activation, lectin pathway", "id": "GO:0001867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001867", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement-dependent cytotoxicity", "id": "GO:0097278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097278", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "regulation of complement activation", "id": "GO:0030449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030449", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of D-glucose transmembrane transport", "id": "GO:0010828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010828", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of opsonization", "id": "GO:1903028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903028", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "tolerance induction", "id": "GO:0002507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002507", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of activation of membrane attack complex", "id": "GO:0001970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001970", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "opsonization", "id": "GO:0008228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008228", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "oviduct epithelium development", "id": "GO:0035846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035846", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "positive regulation of type IIa hypersensitivity", "id": "GO:0001798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001798", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "regulation of triglyceride biosynthetic process", "id": "GO:0010866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010866", "evidence": [ { "database": "UniProtKB", "id": "P01026", "url": "https://www.uniprot.org/uniprotkb/P01026" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", 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This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12574", "name": "posterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12574", "evidence": [ { "id": "12574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ], "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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12895", "name": "keratoconjunctivitis sicca", "description": "", "url": "https://disease-ontology.org/term/DOID:12895", "evidence": [ { "id": "12895", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12895" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1962", "name": "fallopian tube disease", "description": "A female reproductive system disease that is located_in the fallopian tube.", "url": "https://disease-ontology.org/term/DOID:1962", "evidence": [ { "id": "1962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1962" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2366", "name": "West Nile fever", "description": "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:2366", "evidence": [ { "id": "2366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2366" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3482", "name": "plague", "description": "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.", "url": "https://disease-ontology.org/term/DOID:3482", "evidence": [ { "id": "3482", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3482" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4166", "name": "syphilis", "description": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "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": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "O08556", "url": "https://www.uniprot.org/uniprotkb/O08556" } ], "pmid": "" }, { "name": "response to 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. 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"id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:14219", "name": "renal tubular acidosis", "description": "A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis.", "url": "https://disease-ontology.org/term/DOID:14219", "evidence": [ { "id": "14219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14219" } ], "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: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": 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"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: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:885", "name": "fascioliasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. 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suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor binding", "id": "GO:0034191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034191", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "high-density lipoprotein particle binding", "id": "GO:0008035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008035", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "apolipoprotein receptor binding", "id": "GO:0034190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034190", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "lipase inhibitor activity", "id": "GO:0055102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055102", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "high-density lipoprotein particle receptor binding", "id": "GO:0070653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070653", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "chemorepellent activity", "id": "GO:0045499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045499", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle", "id": "GO:0034363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034363", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "spherical high-density lipoprotein particle", "id": "GO:0034366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034366", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "discoidal high-density lipoprotein particle", "id": "GO:0034365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034365", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P04639", "url": "https://www.uniprot.org/uniprotkb/P04639" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": 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"DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "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: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: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: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:2582", "name": "acatalasia", "description": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:2582", "evidence": [ { "id": "2582", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2582" } ], "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: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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3762", "name": "cytochrome-c oxidase deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.", "url": "https://disease-ontology.org/term/DOID:3762", "evidence": [ { "id": "3762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3762" } ], "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: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: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:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID: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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8295", "name": "scabies", "description": "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades.", "url": "https://disease-ontology.org/term/DOID:8295", "evidence": [ { "id": "8295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8295" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8741", "name": "seborrheic dermatitis", "description": "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.", "url": "https://disease-ontology.org/term/DOID:8741", "evidence": [ { "id": "8741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8741" } ], "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:890", "name": "mitochondrial encephalomyopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:890", "evidence": [ { "id": "890", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:890" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9201", "name": "lichen planus", "description": "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.", "url": "https://disease-ontology.org/term/DOID:9201", "evidence": [ { "id": "9201", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9201" } ], "weight": 0.0 }, { "disease_id": "DOID:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "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:9637", "name": "stomatitis", "description": "A mouth disease that is characterized by inflammation of the mouth and lips.", "url": "https://disease-ontology.org/term/DOID:9637", "evidence": [ { "id": "9637", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9637" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "aminoacylase activity", "id": "GO:0004046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004046", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "catalase activity", "id": "GO:0004096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004096", "evidence": [ { "database": "UniProtKB", "id": "P04762", "url": "https://www.uniprot.org/uniprotkb/P04762" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on peroxide as 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The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.", "url": "https://disease-ontology.org/term/DOID:0111682", "evidence": [ { "id": "0111682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111682" } ], "weight": 0.0 }, { "disease_id": "DOID:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the 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"url": "https://www.uniprot.org/uniprotkb/A0A0G2K0Y0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2K0Y0-1" }, { "uniprot_canonical_ac": "P30919-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P30919", "url": "https://www.uniprot.org/uniprotkb/P30919" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 345, "chemical_mass": 37167.0, "gene_names": "Aga;Aga", "protein_name": "N(4)-(Beta-N-acetylglucosaminyl)-L-asparaginase", "disease": [ { "disease_id": "DOID:0050461", "name": "aspartylglucosaminuria", "description": "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.", "url": "https://disease-ontology.org/term/DOID:0050461", "evidence": [ { "id": "0050461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050461" } ], "weight": 0.0 }, { "disease_id": "DOID:3211", "name": "lysosomal storage disease", "description": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.", "url": "https://disease-ontology.org/term/DOID:3211", "evidence": [ { "id": "3211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3211" } ], "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": "P30919", "url": "https://www.uniprot.org/uniprotkb/P30919" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016811", "evidence": [ { "database": "UniProtKB", "id": "P30919", "url": "https://www.uniprot.org/uniprotkb/P30919" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P30919-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Asn149", "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": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "P30919", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30919#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P30919-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Asn307", "weight": 0.0, "glycosylation": [ 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"Asn38", "evidence": [ { "id": "P30919", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P30919#ptm_processing" }, { "id": "2775174", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2775174" } ] } ] } ], "record_id": "P30919-1" }, { "uniprot_canonical_ac": "P50297-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 290, "chemical_mass": 33437.0, "gene_names": "Nat1;Nat2;Nat3;Aac1;Nat1;Nat3;Nat", "protein_name": "Arylamine N-acetyltransferase 1", "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": 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"https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "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: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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4404", "name": "occupational dermatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4404", "evidence": [ { "id": "4404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to thyroxine", "id": "GO:0097068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097068", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" } ], "molecular_function": [ { "name": "arylamine N-acetyltransferase activity", "id": "GO:0004060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004060", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" }, { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprotkb/P50297" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50297-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Thr96", "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": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "P50297-1" }, { "uniprot_canonical_ac": "P33124-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 697, "chemical_mass": 78180.0, "gene_names": "Acsl6;Acs2;Acsl6;Facl6;LACS 6;Lacsl", "protein_name": "Long-chain-fatty-acid--CoA ligase 6", "disease": [ { "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:9119", "name": "acute myeloid leukemia", "description": "A 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"GO:0035338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035338", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": 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"GO:0010747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010747", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P33124", "url": "https://www.uniprot.org/uniprotkb/P33124" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": 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"uniprot_canonical_ac": "Q10743-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 749, "chemical_mass": 84087.0, "gene_names": "Adam10;Adam10;MADM;Madm", "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "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:0060258", "name": "reticulate acropigmentation of Kitamura", "description": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.", "url": "https://disease-ontology.org/term/DOID:0060258", "evidence": [ { "id": "0060258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060258" } ], "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:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": 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"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:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "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: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: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: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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye 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"database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": "https://www.uniprot.org/uniprotkb/Q10743" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "Q10743", "url": 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that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4948", "evidence": [ { "id": "4948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4948" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "leading edge of lamellipodium", "id": "GO:0061851", "url": 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"id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "Arp2/3 protein complex", "id": "GO:0005885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005885", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "podosome core", "id": "GO:0061825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061825", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "hemidesmosome", "id": "GO:0030056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030056", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "apical tubulobulbar complex", "id": "GO:0061828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061828", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "apical ectoplasmic specialization", "id": "GO:0061831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061831", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "basal ectoplasmic specialization", "id": "GO:0061832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061832", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "concave side of sperm head", "id": "GO:0061830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061830", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" } ], "biological_process": [ { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": "GO:0034314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034314", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of filopodium assembly", "id": "GO:0051491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051491", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "meiotic chromosome movement towards spindle pole", "id": "GO:0016344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016344", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "meiotic cytokinesis", "id": "GO:0033206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033206", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to trichostatin A", "id": "GO:0035984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035984", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "spindle localization", "id": "GO:0051653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051653", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "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": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "regulation of myosin II filament organization", "id": "GO:0043519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043519", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to pyrimidine ribonucleotide", "id": "GO:1905835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905835", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "response to heparin", "id": "GO:0071503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071503", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "postsynapse organization", "id": "GO:0099173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099173", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "negative regulation of bleb assembly", "id": "GO:1904171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904171", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "Sertoli cell barrier remodeling", "id": "GO:0061843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061843", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "cellular response to triterpenoid", "id": "GO:1905837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905837", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q4V7C7", "url": "https://www.uniprot.org/uniprotkb/Q4V7C7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q4V7C7-1" }, { "uniprot_canonical_ac": "Q5FVP8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 388, "chemical_mass": 43795.0, "gene_names": "Dgat2;ARAT;Dgat2", "protein_name": "Diacylglycerol O-acyltransferase 2", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to oleic acid", "id": "GO:0071400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071400", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "diacylglycerol metabolic process", "id": "GO:0046339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046339", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "regulation of plasma lipoprotein particle levels", "id": "GO:0097006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097006", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "negative regulation of fatty acid oxidation", "id": "GO:0046322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046322", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "diacylglycerol biosynthetic process", "id": "GO:0006651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006651", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "regulation of lipoprotein metabolic process", "id": "GO:0050746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050746", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "intracellular 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"pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q5FVP8", "url": "https://www.uniprot.org/uniprotkb/Q5FVP8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": 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"protein_name": "Cullin-associated NEDD8-dissociated protein 1", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97536", "url": "https://www.uniprot.org/uniprotkb/P97536" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P97536", "url": "https://www.uniprot.org/uniprotkb/P97536" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", 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"" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P80201", "url": "https://www.uniprot.org/uniprotkb/P80201" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P80201", "url": "https://www.uniprot.org/uniprotkb/P80201" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "P80201", "url": "https://www.uniprot.org/uniprotkb/P80201" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P80201", "url": "https://www.uniprot.org/uniprotkb/P80201" } ], "pmid": 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"end_pos": "260", "site_lbl": "Gln260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Small decrease in inhibition by the snake mambalgin-2 toxin; when associated with K-190 and Q-259.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "24695733", "url": "https://glygen.org/publication/PubMed/24695733" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Tyr316", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No change in the shift of pH for both activation and desensitization by the spider venom psalmotoxin-1.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "26248594", "url": "https://glygen.org/publication/PubMed/26248594" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", 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Very high decrease in inhibition by the snake mambalgin-2 toxin.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "24695733", "url": "https://glygen.org/publication/PubMed/24695733" }, { "database": "PubMed", "id": "26680001", "url": "https://glygen.org/publication/PubMed/26680001" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "352", "end_pos": "352", "site_lbl": "Val352", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Moderate decrease in inhibition by the snake mambalgin-2 toxin.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "24695733", "url": "https://glygen.org/publication/PubMed/24695733" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "354", "end_pos": "354", "site_lbl": "Lys354", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No change in the shift of pH for both activation and desensitization by the spider venom psalmotoxin-1.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "26248594", "url": "https://glygen.org/publication/PubMed/26248594" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Gln356", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "S", "comment": "Moderate decrease in inhibition by the snake mambalgin-2 toxin.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "24695733", "url": "https://glygen.org/publication/PubMed/24695733" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "357", "end_pos": "357", "site_lbl": "Glu357", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "N", "comment": "Moderate decrease in inhibition by the snake mambalgin-2 toxin.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "24695733", "url": "https://glygen.org/publication/PubMed/24695733" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Glu425", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Reduction of Ca(2+) block. Loss of Ca(2+) block; when associated with C-432.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "15452199", "url": "https://glygen.org/publication/PubMed/15452199" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Gly431", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "F", "comment": "Constitutive channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "9360943", "url": "https://glygen.org/publication/PubMed/9360943" } ] }, { "sequence_org": "G", "sequence_mut": "V", "comment": "Constitutive channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "9360943", "url": "https://glygen.org/publication/PubMed/9360943" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Asp432", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Reduction of Ca(2+) block.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "15452199", "url": "https://glygen.org/publication/PubMed/15452199" } ] }, { "sequence_org": "D", "sequence_mut": "C", "comment": "Reduction of Ca(2+) block. Loss of Ca(2+) block; when associated with G-425.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "15452199", "url": "https://glygen.org/publication/PubMed/15452199" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Gln436", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "N", "comment": "No effect on Ca(2+) block.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "15452199", "url": "https://glygen.org/publication/PubMed/15452199" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Ser83", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "No effect on pH-gated monoatomic ion channel activity. Increases desensitization rates; when associated with L-84 and M-85.", "evidence": [ { "database": "UniProtKB", "id": "P55926", "url": "https://www.uniprot.org/uniprotkb/P55926" }, { "database": "PubMed", "id": "12947112", "url": "https://glygen.org/publication/PubMed/12947112" } ] } ] }, { "uniprot_canonical_ac": "P55926-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Gln84", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "No effect on pH-gated monoatomic ion channel activity. 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} ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P51796", "url": "https://www.uniprot.org/uniprotkb/P51796" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P51796", "url": "https://www.uniprot.org/uniprotkb/P51796" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P51796", "url": "https://www.uniprot.org/uniprotkb/P51796" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P51796", "url": "https://www.uniprot.org/uniprotkb/P51796" } ], "pmid": "" }, { "name": "antiporter 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P51792", "url": "https://www.uniprot.org/uniprotkb/P51792" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 818, "chemical_mass": 90855.0, "gene_names": "Clcn3;ClC-3;Clcn3", "protein_name": "H(+)/Cl(-) exchange transporter 3", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.", "url": "https://disease-ontology.org/term/DOID:0050699", "evidence": [ { "id": "0050699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050699" } ], "weight": 0.0 }, { "disease_id": "DOID:0110731", "name": "neuronal ceroid lipofuscinosis 3", "description": "A neuronal ceroid lipofuscinosis that is characterized by 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"pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" } ], "biological_process": [ { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "negative regulation of protein neddylation", "id": "GO:2000435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000435", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "protein neddylation", "id": "GO:0045116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045116", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "response to UV-C", "id": "GO:0010225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010225", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "positive regulation of protein neddylation", "id": "GO:2000436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000436", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" }, { "name": "regulation of protein neddylation", "id": "GO:2000434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000434", "evidence": [ { "database": "UniProtKB", "id": "Q4V8B2", "url": "https://www.uniprot.org/uniprotkb/Q4V8B2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q4V8B2-1" }, { "uniprot_canonical_ac": "P10608-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 418, "chemical_mass": 46891.0, "gene_names": "Adrb2;Adrb2r", "protein_name": "Beta-2 adrenergic receptor", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "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: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: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: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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of the force of heart contraction by epinephrine", "id": "GO:0003059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003059", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "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": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "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": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "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": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071880", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "negative regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045744", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "negative regulation of urine volume", "id": "GO:0035811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035811", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting adrenergic receptor signaling pathway", "id": "GO:0071881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071881", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002025", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "heat generation", "id": "GO:0031649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031649", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "negative regulation of multicellular organism growth", "id": "GO:0040015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040015", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "bone resorption", "id": "GO:0045453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045453", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "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": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of mini excitatory postsynaptic potential", "id": "GO:0061885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061885", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "adrenergic receptor signaling pathway", "id": "GO:0071875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071875", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of autophagosome maturation", "id": "GO:1901098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901098", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of lipophagy", "id": "GO:1904504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904504", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P10608", "url": "https://www.uniprot.org/uniprotkb/P10608" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": 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by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "embryo development ending in birth or egg hatching", "id": "GO:0009792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009792", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "negative regulation of calcium ion import", "id": "GO:0090281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090281", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "neutrophil mediated immunity", "id": "GO:0002446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002446", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by renin-angiotensin", "id": "GO:0003081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003081", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "positive regulation of systemic arterial blood pressure", "id": "GO:0003084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003084", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "post-transcriptional regulation of gene expression", "id": "GO:0010608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010608", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell migration", "id": "GO:0014910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014910", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "hormone catabolic process", "id": "GO:0042447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042447", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of angiotensin metabolic process", "id": "GO:0060177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060177", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "cell proliferation in bone marrow", "id": "GO:0071838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071838", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "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": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "regulation of hematopoietic stem cell proliferation", "id": "GO:1902033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902033", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "negative regulation of gap junction assembly", "id": "GO:1903597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903597", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to laminar fluid shear stress", "id": "GO:0034616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034616", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "peptide metabolic process", "id": "GO:0006518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006518", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "cellular response to aldosterone", "id": "GO:1904045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904045", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "bradykinin catabolic process", "id": "GO:0010815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010815", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "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": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "substance P catabolic process", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P47820", "url": "https://www.uniprot.org/uniprotkb/P47820" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": 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by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "negative regulation of serine-type endopeptidase activity", "id": "GO:1900004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900004", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to methanol", "id": "GO:0033986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033986", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to triglyceride", "id": "GO:0034014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034014", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" }, { "name": "response to chromate", "id": "GO:0046687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046687", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P17475-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Asn101", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, 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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": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "P17475", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P17475#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P17475-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P17475", "url": "https://www.uniprot.org/uniprotkb/P17475" } ] } ] }, { "uniprot_canonical_ac": "P17475-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "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": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "acylglycerol catabolic process", "id": "GO:0046464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046464", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "medium-chain fatty acid metabolic process", "id": "GO:0051791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051791", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "negative regulation of cholesterol storage", "id": "GO:0010887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010887", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle assembly", "id": "GO:0034379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034379", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "positive regulation of cholesterol metabolic process", "id": "GO:0090205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090205", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cytosolic lipolysis", "id": "GO:0061725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061725", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "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": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "regulation of bile acid secretion", "id": "GO:0120188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120188", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cold-induced thermogenesis", "id": "GO:0106106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106106", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" } ], "molecular_function": [ { "name": "sterol ester esterase activity", "id": "GO:0004771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004771", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "triacylglycerol lipase activity", "id": "GO:0004806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004806", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "retinyl-palmitate esterase activity", "id": "GO:0050253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050253", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "fatty-acyl-ethyl-ester synthase activity", "id": "GO:0030339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030339", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity", "id": "GO:0047376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047376", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "carboxylesterase activity", "id": "GO:0106435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106435", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P16303-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Asn489", "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": 489, "start_aa": "Asn", "end_pos": 489, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn489", "evidence": [ { "id": "P16303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16303#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16303-1", "start_pos": "79", "end_pos": "79", "site_lbl": "Asn79", "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": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "evidence": [ { "id": "P16303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P16303#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P16303-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Gln186", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "No effect on the hydrolysis of PNPC or PNPA, no activity on cholesteryl oleate. No effect on the hydrolysis of PNPC or PNPA, no activity on cholesteryl oleate; when associated with E-492; or with T-491 and E-492. Increases activity on PNPC compared to activity on PNPA; when associated with I-423; T-491 and E-492.", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" }, { "database": "PubMed", "id": "11429416", "url": "https://glygen.org/publication/PubMed/11429416" } ] } ] }, { "uniprot_canonical_ac": "P16303-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Met423", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Increases specific activity against PNPC by 8-fold, does not increase activity against PNPA, no activity on cholesteryl oleate. Increases activity on PNPC compared to activity on PNPA; when associated with R-186; T-491 and E-492. Increases specific activity against PNPC by 7.5-fold and against PNPA by 3.6-fold, and increases cholesteryl esterase activity by 2.7 fold; when associated with S-506.", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" }, { "database": "PubMed", "id": "11429416", "url": "https://glygen.org/publication/PubMed/11429416" } ] } ] }, { "uniprot_canonical_ac": "P16303-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ser491", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "No effect on the hydrolysis of PNPC or PNPA, no activity on cholesteryl oleate; when associated with R-186 and E-492. 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Increases specific activity against PNPC by 7.5-fold and against PNPA by 3.6-fold, and increases cholesteryl esterase activity by 2.7 fold; when associated with I-423.", "evidence": [ { "database": "UniProtKB", "id": "P16303", "url": "https://www.uniprot.org/uniprotkb/P16303" }, { "database": "PubMed", "id": "11429416", "url": "https://glygen.org/publication/PubMed/11429416" } ] } ] } ], "record_id": "P16303-1" }, { "uniprot_canonical_ac": "P0C588-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 772, "chemical_mass": 86692.0, "gene_names": "Cnnm4;Acdp4;Cnnm4", "protein_name": "Metal transporter CNNM4", "disease": [ { "disease_id": "DOID:0111404", "name": "Jalili syndrome", "description": "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.", "url": "https://disease-ontology.org/term/DOID:0111404", "evidence": [ { "id": "0111404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111404" } ], "weight": 0.0 } ], "biological_process": [ { "name": "magnesium ion transport", "id": "GO:0015693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015693", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "intracellular monoatomic cation homeostasis", "id": "GO:0030003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030003", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" } ], "molecular_function": [ { "name": "sodium ion transmembrane transporter activity", "id": "GO:0015081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015081", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" }, { "name": "magnesium ion transmembrane transporter activity", "id": "GO:0015095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015095", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0C588-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Asn120", "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": 120, "start_aa": "Asn", "end_pos": 120, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn120", "evidence": [ { "id": "P0C588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0C588#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P0C588-1", "start_pos": "658", "end_pos": "658", "site_lbl": "Ser658", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" } ] } ] }, { "uniprot_canonical_ac": "P0C588-1", "start_pos": "662", "end_pos": "662", "site_lbl": "Ser662", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P0C588", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0C588" } ] } ] }, { "uniprot_canonical_ac": "P0C588-1", "start_pos": "767", "end_pos": "767", "site_lbl": "Ser767", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P0C588", "url": "https://www.uniprot.org/uniprotkb/P0C588" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P0C588", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0C588" } ] } ] } ], "record_id": "P0C588-1" }, { "uniprot_canonical_ac": "Q5FVC2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 985, "chemical_mass": 111909.0, "gene_names": "Arhgef2;Arhgef2", "protein_name": "Rho guanine nucleotide exchange factor 2", "disease": [ { "disease_id": "DOID:0080312", "name": "neurodevelopmental disorder with midbrain and hindbrain malformations", "description": "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0080312", "evidence": [ { "id": "0080312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080312" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" } ], "biological_process": [ { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": 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factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "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": "Q5FVC2", "url": "https://www.uniprot.org/uniprotkb/Q5FVC2" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q5FVC2", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q4KLF8", "url": "https://www.uniprot.org/uniprotkb/Q4KLF8" } ], "pmid": "" }, { "name": "smooth muscle cell migration", "id": "GO:0014909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014909", "evidence": [ { "database": "UniProtKB", "id": "Q4KLF8", "url": "https://www.uniprot.org/uniprotkb/Q4KLF8" } ], "pmid": "" }, { "name": "Arp2/3 complex-mediated actin nucleation", "id": "GO:0034314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034314", "evidence": [ { "database": "UniProtKB", "id": "Q4KLF8", "url": "https://www.uniprot.org/uniprotkb/Q4KLF8" } ], "pmid": "" }, { "name": "actin filament network formation", "id": "GO:0051639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051639", "evidence": [ { "database": "UniProtKB", "id": "Q4KLF8", "url": "https://www.uniprot.org/uniprotkb/Q4KLF8" } ], "pmid": "" }, { "name": "orbitofrontal cortex development", "id": "GO:0021769", "url": 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of medications, recreational drugs, and alcohol.", "url": "https://disease-ontology.org/term/DOID:0060001", "evidence": [ { "id": "0060001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060001" } ], "weight": 0.0 }, { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.", "url": "https://disease-ontology.org/term/DOID:0060731", "evidence": [ { "id": "0060731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060731" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0090125", "name": "brain small vessel disease 1", "description": "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.", "url": "https://disease-ontology.org/term/DOID:0090125", "evidence": [ { "id": "0090125", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090125" } ], "weight": 0.0 }, { "disease_id": "DOID:0111547", "name": "retinal arterial tortuosity", "description": "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34.", "url": "https://disease-ontology.org/term/DOID:0111547", "evidence": [ { "id": "0111547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111547" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], 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"name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:13399", "name": "color blindness", "description": "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.", "url": "https://disease-ontology.org/term/DOID:13399", "evidence": [ { "id": "13399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13399" } ], "weight": 0.0 }, { 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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:13709", "name": "premature ejaculation", "description": "", "url": "https://disease-ontology.org/term/DOID:13709", "evidence": [ { "id": "13709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13709" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "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: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: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:9427", "name": "hypertensive encephalopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9427", "evidence": [ { "id": "9427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9427" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "regulation of retinal cell programmed cell death", "id": "GO:0046668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046668", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "taste bud development", "id": "GO:0061193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061193", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "response to nerve growth factor", "id": "GO:1990089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990089", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "regulation of short-term neuronal synaptic plasticity", "id": "GO:0048172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048172", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "regeneration", "id": "GO:0031099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031099", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "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": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "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": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "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": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "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": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "cellular response to norepinephrine stimulus", "id": "GO:0071874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071874", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P23363", "url": "https://www.uniprot.org/uniprotkb/P23363" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", 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"Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "Atg12-Atg5-Atg16 complex", "id": "GO:0034274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034274", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" 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"https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { 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assembly", "id": "GO:0061739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061739", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "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": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "cellular response to nitrogen starvation", "id": "GO:0006995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006995", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "response to fungus", "id": "GO:0009620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009620", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous antigen", "id": "GO:0019883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019883", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "otolith development", "id": "GO:0048840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048840", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "cellular response to nitrosative stress", "id": "GO:0071500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071500", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "response to fluoride", "id": "GO:1902617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902617", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "negative regulation of defense response to virus", "id": "GO:0050687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050687", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "negative regulation of autophagic cell death", "id": "GO:1904093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904093", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "regulation of autophagosome maturation", "id": "GO:1901096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901096", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "Q3MQ06", "url": "https://www.uniprot.org/uniprotkb/Q3MQ06" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": 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"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 } ], "cellular_component": [ { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "P48284", "url": "https://www.uniprot.org/uniprotkb/P48284" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P48284", "url": "https://www.uniprot.org/uniprotkb/P48284" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"https://www.uniprot.org/uniprotkb/P0C1S9" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "P0C1S9", "url": "https://www.uniprot.org/uniprotkb/P0C1S9" } ], "pmid": "" }, { "name": "cannabinoid biosynthetic process", "id": "GO:1901696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901696", "evidence": [ { "database": "UniProtKB", "id": "P0C1S9", "url": "https://www.uniprot.org/uniprotkb/P0C1S9" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P0C1S9", "url": "https://www.uniprot.org/uniprotkb/P0C1S9" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0C1S9", "url": 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"protein_name": "Carboxypeptidase B", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P19223", "url": "https://www.uniprot.org/uniprotkb/P19223" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P19223", "url": "https://www.uniprot.org/uniprotkb/P19223" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P19223", "url": "https://www.uniprot.org/uniprotkb/P19223" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P19223", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P26051", "url": "https://www.uniprot.org/uniprotkb/P26051" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 503, "chemical_mass": 55946.0, "gene_names": "Cd44;CD44A;Cd44;METAA;RHAMM", "protein_name": "CD44 antigen", "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 }, { "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": 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0.0 } ], "biological_process": [ { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "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": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "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": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane repolarization", "id": "GO:0060372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060372", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "membrane depolarization during SA node cell action potential", "id": "GO:0086046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086046", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "optic nerve development", "id": "GO:0021554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021554", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "membrane depolarization during cardiac muscle cell action potential", "id": "GO:0086012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086012", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase activity", "id": "GO:0045762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045762", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1904879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904879", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "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": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of membrane depolarization", "id": "GO:1904181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904181", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "regulation of monoatomic cation transmembrane transport", "id": "GO:1904062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904062", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "regulation of metal ion transport", "id": "GO:0010959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010959", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], "pmid": "" }, { "name": "positive regulation of secretion by cell", "id": "GO:1903532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903532", "evidence": [ { "database": "UniProtKB", "id": "P27732", "url": "https://www.uniprot.org/uniprotkb/P27732" } ], 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The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers.", "url": "https://disease-ontology.org/term/DOID:5015", "evidence": [ { "id": "5015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5015" } ], "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: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: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:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "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:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" } ], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "regulation of phosphate transport", "id": "GO:0010966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010966", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "regulation of phosphorus metabolic process", "id": "GO:0051174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051174", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway", "id": "GO:0090080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "diphosphate metabolic process", "id": "GO:0071344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071344", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "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": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q04589", "url": "https://www.uniprot.org/uniprotkb/Q04589" } ], "pmid": "" }, { "name": "calcium ion homeostasis", 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[], "cellular_component": [ { "name": "ESCRT III complex", "id": "GO:0000815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000815", "evidence": [ { "database": "UniProtKB", "id": "Q569C1", "url": "https://www.uniprot.org/uniprotkb/Q569C1" } ], "pmid": "" }, { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "Q569C1", "url": "https://www.uniprot.org/uniprotkb/Q569C1" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q569C1", "url": "https://www.uniprot.org/uniprotkb/Q569C1" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q569C1", "url": "https://www.uniprot.org/uniprotkb/Q569C1" } ], "pmid": "" }, { "name": "nuclear pore", 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The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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: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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:813", "name": "septic arthritis", "description": "An arthritis that involves infection by a pathogen located_in joint.", "url": "https://disease-ontology.org/term/DOID:813", "evidence": [ { "id": "813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:813" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. 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"GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50230", "url": "https://www.uniprot.org/uniprotkb/P50230" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P50230", "url": "https://www.uniprot.org/uniprotkb/P50230" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P50230", "url": "https://www.uniprot.org/uniprotkb/P50230" } ], "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": "P50230", "url": "https://www.uniprot.org/uniprotkb/P50230" } ], "pmid": "" }, { 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chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0060989", "evidence": [ { "id": "0060989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060989" } ], "weight": 0.0 }, { "disease_id": "DOID:0061198", "name": "Bethlem myopathy 1A", "description": "A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22.", "url": "https://disease-ontology.org/term/DOID:0061198", "evidence": [ { "id": "0061198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061198" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:0111029", "name": "hemochromatosis type 1", "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.", "url": "https://disease-ontology.org/term/DOID:0111029", "evidence": [ { "id": "0111029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111029" } ], "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:10286", "name": 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], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "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": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "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": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprotkb/P49001" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", 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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: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:9278", "name": "hyperargininemia", "description": "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.", "url": "https://disease-ontology.org/term/DOID:9278", "evidence": [ { "id": "9278", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9278" } ], "weight": 0.0 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "cellular response to glucagon stimulus", "id": "GO:0071377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071377", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "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": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to manganese ion", "id": "GO:0010042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010042", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "maternal process involved in female pregnancy", "id": "GO:0060135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060135", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "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": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to vitamin A", "id": "GO:0033189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033189", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "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": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to amine", "id": "GO:0014075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014075", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "defense response to protozoan", "id": "GO:0042832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "negative regulation of type II interferon-mediated signaling pathway", "id": "GO:0060336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060336", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "positive regulation of neutrophil mediated killing of fungus", "id": "GO:0070965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070965", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "negative regulation of T-helper 2 cell cytokine production", "id": "GO:2000552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000552", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "P07824", "url": "https://www.uniprot.org/uniprotkb/P07824" } ], "pmid": "" }, { "name": "regulation of L-arginine import across plasma membrane", "id": "GO:1905541", "url": 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"url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "clathrin coat of trans-Golgi network vesicle", "id": "GO:0030130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030130", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "clathrin coat of coated pit", "id": "GO:0030132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030132", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": 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"url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" }, { "name": "synaptic vesicle coating", "id": "GO:0016183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016183", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P08082-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ] } ] }, { "uniprot_canonical_ac": "P08082-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Ser13", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ] } ] }, { "uniprot_canonical_ac": "P08082-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ] } ] }, { "uniprot_canonical_ac": "P08082-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ser217", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P08082", "url": "https://www.uniprot.org/uniprotkb/P08082" } ] } ] } ], "record_id": "P08082-1" }, { "uniprot_canonical_ac": "P08483-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 589, "chemical_mass": 66066.0, "gene_names": "Chrm3;Chrm-3;Chrm3", "protein_name": "Muscarinic acetylcholine receptor M3", "disease": [ { "disease_id": "DOID:0050572", "name": "cone-rod dystrophy", "description": "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.", "url": "https://disease-ontology.org/term/DOID:0050572", "evidence": [ { "id": "0050572", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050572" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": 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"description": "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.", "url": "https://disease-ontology.org/term/DOID:0111541", "evidence": [ { "id": "0111541", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111541" } ], "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:14791", "name": "Leber congenital amaurosis", "description": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.", "url": "https://disease-ontology.org/term/DOID:14791", "evidence": [ { "id": "14791", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14791" } ], "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:365", "name": "bladder disease", "description": "A urinary system disease that is located_in the bladder.", "url": "https://disease-ontology.org/term/DOID:365", "evidence": [ { "id": "365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:365" } ], "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:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" }, { "name": "basal plasma membrane", "id": "GO:0009925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009925", "evidence": [ { "database": "UniProtKB", "id": "P08483", "url": "https://www.uniprot.org/uniprotkb/P08483" } ], "pmid": "" 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"gene_names": "C5", "protein_name": "Complement C5", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "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:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8158", "name": "complement component 5 deficiency", "description": "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system.", "url": "https://disease-ontology.org/term/DOID:8158", "evidence": [ { "id": "8158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8158" } ], "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": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "membrane attack complex", "id": "GO:0005579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005579", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "other organism cell membrane", "id": "GO:0044218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044218", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": 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norepinephrine secretion", "id": "GO:0010700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010700", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "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": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "complement activation, lectin pathway", "id": "GO:0001867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001867", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, { "name": "negative regulation of macrophage chemotaxis", "id": "GO:0010760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010760", "evidence": [ { "database": "UniProtKB", "id": "P08650", "url": "https://www.uniprot.org/uniprotkb/P08650" } ], "pmid": "" }, 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0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "respiratory chain complex IV", "id": "GO:0045277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045277", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "cytochrome-c oxidase activity", "id": "GO:0004129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004129", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" } ], "biological_process": [ { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" }, { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "P12075", "url": "https://www.uniprot.org/uniprotkb/P12075" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P12075-1" }, { "uniprot_canonical_ac": "P12389-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 511, "chemical_mass": 58611.0, "gene_names": "Chrna2;ACHR;Acra2;Chrna2", "protein_name": "Neuronal acetylcholine receptor subunit alpha-2", "disease": [ { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe 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} ], "biological_process": [ { "name": "modulation of inhibitory postsynaptic potential", "id": "GO:0098828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098828", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": 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"https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": "https://www.uniprot.org/uniprotkb/P12389" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P12389", "url": 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bruising and acrogeric traits.", "url": "https://disease-ontology.org/term/DOID:14756", "evidence": [ { "id": "14756", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14756" } ], "weight": 0.0 }, { "disease_id": "DOID:14757", "name": "Ehlers-Danlos syndrome hypermobility type", "description": "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.", "url": "https://disease-ontology.org/term/DOID:14757", "evidence": [ { "id": "14757", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14757" } ], "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: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: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: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": 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"url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "aorta smooth muscle tissue morphogenesis", "id": "GO:0060414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060414", "evidence": [ { "database": "UniProtKB", "id": "P13941", "url": "https://www.uniprot.org/uniprotkb/P13941" } ], "pmid": "" }, { "name": "gene expression", "id": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "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: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "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:9446", "name": "cholangitis", "description": "A bile duct disease that is an inflammation of the bile duct.", "url": "https://disease-ontology.org/term/DOID:9446", "evidence": [ { "id": "9446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9446" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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 cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "chemokinesis", "id": "GO:0042466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042466", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "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": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to isolation stress", "id": "GO:0035900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035900", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "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": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "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": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "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": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "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": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to interleukin-6", "id": "GO:0071354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071354", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "cellular response to high density lipoprotein particle stimulus", "id": "GO:0071403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071403", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of immune complex clearance by monocytes and macrophages", "id": "GO:0090265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090265", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "response to cyclosporin A", "id": "GO:1905237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905237", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "positive regulation of apoptotic cell clearance", "id": "GO:2000427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000427", "evidence": [ { "database": "UniProtKB", "id": "P14844", "url": "https://www.uniprot.org/uniprotkb/P14844" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell chemotaxis", "id": "GO:2000502", "url": 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"negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "olfactory pit development", "id": "GO:0060166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060166", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "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": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { 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"name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "noradrenergic neuron development", "id": "GO:0003358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003358", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "noradrenergic 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oligodendrocyte cell fate specification", "id": "GO:0021530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021530", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "vestibular nucleus development", "id": "GO:0021750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021750", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "cerebral cortex GABAergic interneuron differentiation", "id": "GO:0021892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021892", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "commitment of neuronal cell to specific neuron type in forebrain", "id": "GO:0021902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021902", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": 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"https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "musculoskeletal movement, spinal reflex action", "id": "GO:0050883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050883", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "subpallium neuron fate commitment", "id": "GO:0060163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060163", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "regulation of timing of subpallium neuron differentiation", "id": "GO:0060165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060165", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron fate commitment", "id": "GO:0060579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060579", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "lung neuroendocrine cell differentiation", "id": "GO:0061100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061100", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "stomach neuroendocrine cell differentiation", "id": "GO:0061102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061102", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "carotid body glomus cell differentiation", "id": "GO:0061103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061103", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "adrenal chromaffin cell differentiation", "id": "GO:0061104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061104", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "sympathetic ganglion development", "id": "GO:0061549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061549", "evidence": [ { "database": "UniProtKB", "id": "P19359", "url": "https://www.uniprot.org/uniprotkb/P19359" } ], "pmid": "" }, { "name": "response to epidermal growth factor", "id": "GO:0070849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070849", 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"record_id": "P19360-1" }, { "uniprot_canonical_ac": "P19377-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P19377", "url": "https://www.uniprot.org/uniprotkb/P19377" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 173, "chemical_mass": 19356.0, "gene_names": "Cd3d;Cd3d;T3d", "protein_name": "T-cell surface glycoprotein CD3 delta chain", "disease": [ { "disease_id": "DOID:0111972", "name": "immunodeficiency 19", "description": "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.", "url": "https://disease-ontology.org/term/DOID:0111972", "evidence": [ { "id": "0111972", "database": 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"https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylcholine catabolic process", "id": "GO:0010900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010900", "evidence": [ { "database": "UniProtKB", "id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" }, { "name": "plasma lipoprotein particle remodeling", "id": "GO:0034369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034369", "evidence": [ { "database": "UniProtKB", "id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" } ], "molecular_function": [ { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", 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"id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P19939", "url": "https://www.uniprot.org/uniprotkb/P19939" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P19939-1" }, { "uniprot_canonical_ac": "P22072-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P22072", "url": "https://www.uniprot.org/uniprotkb/P22072" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 373, "chemical_mass": 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"An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "weight": 0.0 }, { "disease_id": "DOID: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", 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"name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "P22072", "url": "https://www.uniprot.org/uniprotkb/P22072" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P22072-1" }, { "uniprot_canonical_ac": "P22283-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P22283", "url": "https://www.uniprot.org/uniprotkb/P22283" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 176, "chemical_mass": 21013.0, "gene_names": "Crp2;P22k15;Crp2;P22k15", "protein_name": "Cystatin-related protein 2", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P22283", "url": 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"", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "P22283", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P22283#ptm_processing" } ] } ] } ], "record_id": "P22283-1" }, { "uniprot_canonical_ac": "P23457-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 322, "chemical_mass": 37028.0, "gene_names": "Akr1c9;Akr1c14;Akr1c9", "protein_name": "3-alpha-hydroxysteroid dehydrogenase", "disease": [ { "disease_id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "progesterone metabolic process", "id": "GO:0042448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042448", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "response to resveratrol", "id": "GO:1904638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904638", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" } ], "molecular_function": [ { "name": "steroid dehydrogenase activity", "id": "GO:0016229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016229", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "androsterone dehydrogenase [NAD(P)+] activity", "id": "GO:0047023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047023", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "bile acid binding", "id": "GO:0032052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032052", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "ketosteroid monooxygenase activity", "id": "GO:0047086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "evidence": [ { "database": "UniProtKB", "id": "P23457", "url": "https://www.uniprot.org/uniprotkb/P23457" } ], "pmid": "" }, { "name": "3-alpha-hydroxysteroid 3-dehydrogenase [NAD(P)+] activity", 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that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:8645", "name": "subacute delirium", "description": "", "url": "https://disease-ontology.org/term/DOID:8645", "evidence": [ { "id": "8645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8645" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": 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"https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "regulation of receptor recycling", "id": "GO:0001919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001919", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "acetylcholine catabolic process", "id": "GO:0006581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006581", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "response to insecticide", "id": "GO:0017085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017085", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "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": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "acetylcholine metabolic process", "id": "GO:0008291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008291", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": 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"name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "synaptic cleft", "id": "GO:0043083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043083", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum lumen", "id": "GO:0048237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048237", "evidence": [ { "database": "UniProtKB", "id": "P37136", "url": "https://www.uniprot.org/uniprotkb/P37136" } 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"" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P38483", "url": "https://www.uniprot.org/uniprotkb/P38483" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P38483", "url": "https://www.uniprot.org/uniprotkb/P38483" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "P38483", "url": "https://www.uniprot.org/uniprotkb/P38483" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P38483", "url": "https://www.uniprot.org/uniprotkb/P38483" } ], "pmid": "" }, { "name": "mRNA 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"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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6827", "name": "pancreatic solid pseudopapillary carcinoma", "description": "A pancreatic carcinoma that is characterized by its papillary architecture.", "url": "https://disease-ontology.org/term/DOID:6827", "evidence": [ { "id": "6827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6827" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": 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"evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "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": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "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": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "positive regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010971", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "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": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to UV-A", "id": "GO:0070141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070141", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P39948", "url": "https://www.uniprot.org/uniprotkb/P39948" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", 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[ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "regulation of dendrite development", "id": "GO:0050773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050773", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "negative regulation of phospholipase C/protein kinase C signal transduction", "id": "GO:0160195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160195", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP-dependent diacylglycerol kinase activity", "id": "GO:0004143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004143", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P49620", "url": "https://www.uniprot.org/uniprotkb/P49620" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P49620-1", "start_pos": "470", "end_pos": "470", "site_lbl": "Thr470", "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": 470, "start_aa": "Thr", "end_pos": 470, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr470", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "P49620-1" }, { "uniprot_canonical_ac": "P50229-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 92, "chemical_mass": 10335.0, "gene_names": "Ccl3;Ccl3;MIP-1a;Mip1a;Scya3", "protein_name": "C-C motif chemokine 3", "disease": [ { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "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 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The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "weight": 0.0 }, { "disease_id": "DOID:13270", "name": "erythropoietic protoporphyria", "description": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.", "url": "https://disease-ontology.org/term/DOID:13270", "evidence": [ { "id": "13270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13270" } ], "weight": 0.0 }, { "disease_id": "DOID:13271", "name": "cutaneous porphyria", "description": "", "url": "https://disease-ontology.org/term/DOID:13271", "evidence": [ { "id": "13271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13271" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis", "id": "GO:0048247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048247", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "regulation of behavior", "id": "GO:0050795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050795", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "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": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "granulocyte chemotaxis", "id": "GO:0071621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071621", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "host-mediated suppression of viral transcription", "id": "GO:0043922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043922", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell chemotaxis", "id": "GO:2000503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000503", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "cell activation", "id": "GO:0001775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001775", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "response to cholesterol", "id": "GO:0070723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070723", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" }, { "name": "eosinophil degranulation", "id": "GO:0043308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043308", "evidence": [ { "database": "UniProtKB", "id": "P50229", "url": "https://www.uniprot.org/uniprotkb/P50229" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P50229-1" }, { "uniprot_canonical_ac": "P50298-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 290, "chemical_mass": 33756.0, "gene_names": "Nat2;Aac2;Nat2a;Nat2", "protein_name": "Arylamine N-acetyltransferase 2", "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: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: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:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "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: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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4404", "name": "occupational dermatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4404", "evidence": [ { "id": "4404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" } ], "molecular_function": [ { "name": "arylamine N-acetyltransferase activity", "id": "GO:0004060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004060", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" }, { "name": "N-acetyltransferase activity", "id": "GO:0008080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008080", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" }, { "name": "N-hydroxyarylamine O-acetyltransferase activity", "id": "GO:0046990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046990", "evidence": [ { "database": "UniProtKB", "id": "P50298", "url": "https://www.uniprot.org/uniprotkb/P50298" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P50298-1" }, { "uniprot_canonical_ac": "P50339-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 247, "chemical_mass": 27569.0, "gene_names": "Cma1;Cma1;MCP3P;Mcpt3;Mcpt5", "protein_name": "Chymase", "disease": [ { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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 } ], "molecular_function": [ { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" } ], "biological_process": [ { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022617", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "peptide metabolic process", "id": "GO:0006518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006518", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "basement membrane disassembly", "id": "GO:0034769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034769", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" }, { "name": "cytokine precursor processing", "id": "GO:0140447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140447", "evidence": [ { "database": "UniProtKB", "id": "P50339", "url": "https://www.uniprot.org/uniprotkb/P50339" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P50339-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Asn80", "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": 80, "start_aa": "Asn", "end_pos": 80, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn80", "evidence": [ { "id": "P50339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P50339#ptm_processing" } ] } ] } ], "record_id": "P50339-1" }, { "uniprot_canonical_ac": "P51556-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 727, "chemical_mass": 82199.0, "gene_names": "Dgka;Dagk1;Dagk;Dgka", "protein_name": "Diacylglycerol kinase alpha", "disease": [ { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 } ], "biological_process": [ { "name": "diacylglycerol metabolic process", "id": "GO:0046339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046339", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "lipid phosphorylation", "id": "GO:0046834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046834", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "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": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "glycerolipid metabolic process", "id": "GO:0046486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046486", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP-dependent diacylglycerol kinase activity", "id": "GO:0004143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004143", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "alkylglycerol kinase activity", "id": "GO:0047649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047649", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51556", "url": "https://www.uniprot.org/uniprotkb/P51556" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P51556-1" }, { "uniprot_canonical_ac": "P51646-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P51646", "url": "https://www.uniprot.org/uniprotkb/P51646" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 179, "chemical_mass": 20714.0, "gene_names": "Arl5a;Arl5a;Arl5", "protein_name": "ADP-ribosylation factor-like protein 5A", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P51646", "url": "https://www.uniprot.org/uniprotkb/P51646" } ], "pmid": "" }, { "name": "GTP 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P53369", "url": "https://www.uniprot.org/uniprotkb/P53369" } ], "pmid": "" } ], "biological_process": [ { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P53369", "url": "https://www.uniprot.org/uniprotkb/P53369" } ], "pmid": "" }, { "name": "DNA protection", "id": "GO:0042262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042262", "evidence": [ { "database": "UniProtKB", "id": "P53369", "url": "https://www.uniprot.org/uniprotkb/P53369" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P53369", "url": "https://www.uniprot.org/uniprotkb/P53369" } ], "pmid": "" }, { "name": "purine nucleoside catabolic process", "id": "GO:0006152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006152", "evidence": [ { "database": "UniProtKB", "id": "P53369", "url": "https://www.uniprot.org/uniprotkb/P53369" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P53369-1" }, { "uniprot_canonical_ac": "P54690-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P54690", "url": "https://www.uniprot.org/uniprotkb/P54690" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 411, "chemical_mass": 46046.0, "gene_names": "Bcat1;Bcat1;Bcatc", "protein_name": "Branched-chain-amino-acid aminotransferase, cytosolic", "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", 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"evidence": [ { "database": "UniProtKB", "id": "P54690", "url": "https://www.uniprot.org/uniprotkb/P54690" } ], "pmid": "" }, { "name": "L-valine-2-oxoglutarate transaminase activity", "id": "GO:0052655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052655", "evidence": [ { "database": "UniProtKB", "id": "P54690", "url": "https://www.uniprot.org/uniprotkb/P54690" } ], "pmid": "" }, { "name": "L-isoleucine-2-oxoglutarate transaminase activity", "id": "GO:0052656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052656", "evidence": [ { "database": "UniProtKB", "id": "P54690", "url": "https://www.uniprot.org/uniprotkb/P54690" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P54690-1" }, { "uniprot_canonical_ac": "P55213-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P55213", "url": "https://www.uniprot.org/uniprotkb/P55213" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 277, "chemical_mass": 31492.0, "gene_names": "Casp3;CPP32-beta;Casp3;Cpp32;Lice;Yama", "protein_name": "Caspase-3", "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:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": 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"", "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: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. 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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: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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3669", "name": "intermittent claudication", "description": "", "url": "https://disease-ontology.org/term/DOID:3669", "evidence": [ { "id": "3669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3669" } ], "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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID: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:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P55213", "url": "https://www.uniprot.org/uniprotkb/P55213" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P55213", "url": "https://www.uniprot.org/uniprotkb/P55213" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P55213", "url": "https://www.uniprot.org/uniprotkb/P55213" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P55213", "url": "https://www.uniprot.org/uniprotkb/P55213" } ], "pmid": 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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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002842", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "positive regulation of macrophage activation", "id": "GO:0043032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043032", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "protein import into mitochondrial intermembrane space", "id": "GO:0045041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045041", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "isotype switching 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"GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "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": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "B cell activation", "id": "GO:0042113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "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": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "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": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "protein refolding", "id": "GO:0042026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042026", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "negative regulation of execution phase of apoptosis", "id": "GO:1900118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900118", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "'de novo' protein folding", "id": "GO:0006458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006458", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "MyD88-dependent toll-like receptor signaling pathway", "id": "GO:0002755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002755", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "cellular response to interleukin-7", "id": "GO:0098761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098761", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "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": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "response to resveratrol", "id": "GO:1904638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904638", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "mitochondrial unfolded protein response", "id": "GO:0034514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034514", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" } ], "cellular_component": [ { "name": "coated vesicle", "id": "GO:0030135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030135", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "zymogen granule", "id": "GO:0042588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042588", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "Golgi cisterna", "id": "GO:0031985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031985", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "lipopolysaccharide receptor complex", "id": "GO:0046696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046696", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "mitochondrial crista", "id": "GO:0030061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030061", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "migrasome", "id": "GO:0140494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140494", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P63039", "url": "https://www.uniprot.org/uniprotkb/P63039" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": 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} ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "extracellular exosome", "id": 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"https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic actin cytoskeleton", "id": "GO:0098973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098973", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" }, { "name": "profilin binding", "id": "GO:0005522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005522", "evidence": [ { "database": "UniProtKB", "id": "P63259", "url": "https://www.uniprot.org/uniprotkb/P63259" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P63259-1" }, { "uniprot_canonical_ac": "P63278-4", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 210, "chemical_mass": 23483.0, "gene_names": "Amelx;Amelx;Amel;Amgx;LRAP", "protein_name": "Amelogenin, X isoform", "disease": [ { "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": 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"url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "amelogenesis", "id": "GO:0097186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097186", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "structural constituent of tooth enamel", "id": "GO:0030345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030345", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "hydroxyapatite binding", "id": "GO:0046848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046848", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" }, { "name": "sodium ion binding", "id": "GO:0031402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63278-4", "start_pos": "32", "end_pos": "32", "site_lbl": "Ser32", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63278", "url": "https://www.uniprot.org/uniprotkb/P63278" } ] } ] } ], "record_id": "P63278-4" }, { "uniprot_canonical_ac": "P68035-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P68035", "url": "https://www.uniprot.org/uniprotkb/P68035" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 377, "chemical_mass": 42019.0, "gene_names": "Actc1;Actc1;Actc", "protein_name": "Actin, alpha cardiac muscle 1", "disease": [ { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0110110", "name": "atrial heart septal defect 5", "description": "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110110", "evidence": [ { "id": "0110110", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110110" } ], "weight": 0.0 }, { "disease_id": "DOID:0110144", "name": "Bartter disease type 3", "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0110144", "evidence": [ { "id": "0110144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110144" } ], "weight": 0.0 }, { "disease_id": "DOID:0110146", "name": "Bartter disease type 4b", "description": "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.", "url": "https://disease-ontology.org/term/DOID:0110146", "evidence": [ { "id": "0110146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110146" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:0110456", "name": "dilated cardiomyopathy 1R", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110456", "evidence": [ { "id": "0110456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110456" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12387", "name": "nephrogenic diabetes insipidus", "description": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).", "url": "https://disease-ontology.org/term/DOID:12387", "evidence": [ { "id": "12387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12387" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. 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muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:445", "name": "Bartter disease", "description": "", "url": "https://disease-ontology.org/term/DOID:445", "evidence": [ { "id": "445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:445" } ], "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": "P68035", "url": "https://www.uniprot.org/uniprotkb/P68035" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P68035", "url": "https://www.uniprot.org/uniprotkb/P68035" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": 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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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID: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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3178", "name": "skin papilloma", "description": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk.", "url": "https://disease-ontology.org/term/DOID:3178", "evidence": [ { "id": "3178", "database": "AGR", 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confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of interleukin-1 alpha production", "id": "GO:0032730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032730", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "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": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "T cell migration", "id": "GO:0072678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072678", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "thymocyte migration", "id": "GO:0072679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072679", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" }, { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "P97884", "url": "https://www.uniprot.org/uniprotkb/P97884" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P97884-1" }, { "uniprot_canonical_ac": "Q00195-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 664, "chemical_mass": 76177.0, "gene_names": "Cnga2;Cncg2", "protein_name": "Cyclic nucleotide-gated channel alpha-2", "disease": [ { "disease_id": "DOID:0050452", "name": "mevalonic aciduria", "description": "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.", "url": "https://disease-ontology.org/term/DOID:0050452", "evidence": [ { "id": "0050452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050452" } ], "weight": 0.0 }, { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070355", "name": "overactive bladder syndrome", "description": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.", "url": "https://disease-ontology.org/term/DOID:0070355", "evidence": [ { "id": "0070355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070355" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1003", "name": "pelvic inflammatory disease", "description": "A female reproductive system disease that is characterized by an infection of the female reproductive organs.", "url": "https://disease-ontology.org/term/DOID:1003", "evidence": [ { "id": "1003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1003" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:1063", "name": "interstitial nephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:1063", "evidence": [ { "id": "1063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1063" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11561", "name": "hypertensive retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11561", "evidence": [ { "id": "11561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11561" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12683", "name": "vestibular neuronitis", "description": "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.", "url": "https://disease-ontology.org/term/DOID:12683", "evidence": [ { "id": "12683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12683" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13276", "name": "Mycoplasma pneumoniae pneumonia", "description": "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.", "url": "https://disease-ontology.org/term/DOID:13276", "evidence": [ { "id": "13276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13276" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:13801", "name": "pharyngoconjunctival fever", "description": "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.", "url": "https://disease-ontology.org/term/DOID:13801", "evidence": [ { "id": "13801", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13801" } ], "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: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: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: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:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID:853", "name": "polymyalgia rheumatica", "description": "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.", "url": "https://disease-ontology.org/term/DOID:853", "evidence": [ { "id": "853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:853" } ], "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: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: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: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: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:9463", "name": "otitis externa", "description": "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.", "url": "https://disease-ontology.org/term/DOID:9463", "evidence": [ { "id": "9463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9463" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "intracellularly cGMP-activated cation channel activity", "id": "GO:0005223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005223", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "intracellularly cAMP-activated cation channel activity", "id": "GO:0005222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005222", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "voltage-gated potassium channel activity", "id": "GO:0005249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005249", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "cAMP binding", "id": "GO:0030552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030552", "evidence": [ { "database": "UniProtKB", "id": "Q00195", "url": "https://www.uniprot.org/uniprotkb/Q00195" } ], "pmid": "" }, { "name": "cGMP binding", "id": "GO:0030553", "url": 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manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "gamma-aminobutyrate shunt", "id": "GO:0006540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006540", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid biosynthetic process", "id": "GO:0009449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009449", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "id": "GO:0002291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002291", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" } ], "cellular_component": [ { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "T cell receptor complex", "id": "GO:0042101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042101", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" } ], "molecular_function": [ { "name": "pyridoxal phosphate binding", "id": "GO:0030170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030170", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "glutamate decarboxylase activity", "id": "GO:0004351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004351", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "glutamate binding", "id": "GO:0016595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016595", "evidence": [ { "database": "UniProtKB", "id": "Q05683", "url": "https://www.uniprot.org/uniprotkb/Q05683" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": 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the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.", "url": "https://disease-ontology.org/term/DOID:0050558", "evidence": [ { "id": "0050558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050558" } ], "weight": 0.0 }, { "disease_id": "DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth.", "url": "https://disease-ontology.org/term/DOID:0050591", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ], "weight": 0.0 }, { "disease_id": "DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the 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"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:0060887", "name": "ossification of the posterior longitudinal ligament of spine", "description": "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.", "url": "https://disease-ontology.org/term/DOID:0060887", "evidence": [ { "id": "0060887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060887" } ], "weight": 0.0 }, { "disease_id": "DOID:0060943", "name": "Ullrich congenital muscular dystrophy 1C", "description": "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0060943", "evidence": [ { "id": "0060943", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060943" } ], "weight": 0.0 }, { "disease_id": "DOID:0061200", "name": "Bethlem myopathy 1C", "description": "A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0061200", "evidence": [ { "id": "0061200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061200" } ], "weight": 0.0 }, { "disease_id": "DOID:0080015", "name": "physical disorder", "description": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.", "url": "https://disease-ontology.org/term/DOID:0080015", "evidence": [ { "id": "0080015", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080015" } ], "weight": 0.0 }, { "disease_id": "DOID:0080205", "name": "congenital anomalies of the kidney and urinary tract", "description": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.", "url": "https://disease-ontology.org/term/DOID:0080205", "evidence": [ { "id": "0080205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080205" } ], "weight": 0.0 }, { "disease_id": "DOID:0080207", "name": "congenital anomalies of the kidney and urinary tract 2", "description": "A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14.", "url": "https://disease-ontology.org/term/DOID:0080207", "evidence": [ { "id": "0080207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080207" } ], "weight": 0.0 }, { "disease_id": "DOID:0080313", "name": "cleft palate-lateral synechia syndrome", "description": "A physical disorder that is characterized by fusion of maxilla and mandible.", "url": "https://disease-ontology.org/term/DOID:0080313", "evidence": [ { "id": "0080313", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080313" } ], "weight": 0.0 }, { "disease_id": "DOID:0080404", "name": "orofacial cleft 11", "description": "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.", "url": "https://disease-ontology.org/term/DOID:0080404", "evidence": [ { "id": "0080404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080404" } ], "weight": 0.0 }, { "disease_id": "DOID:0090050", "name": "dystonia 27", "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.", "url": "https://disease-ontology.org/term/DOID:0090050", "evidence": [ { "id": "0090050", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090050" } ], "weight": 0.0 }, { "disease_id": "DOID:0110122", "name": "Axenfeld-Rieger syndrome type 3", "description": "An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.", "url": "https://disease-ontology.org/term/DOID:0110122", "evidence": [ { "id": "0110122", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110122" } ], "weight": 0.0 }, { "disease_id": "DOID:0111535", "name": "progressive osseous heteroplasia", "description": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.", "url": "https://disease-ontology.org/term/DOID:0111535", "evidence": [ { "id": "0111535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111535" } ], "weight": 0.0 }, { "disease_id": "DOID:0111805", "name": "syndromic microphthalmia 6", "description": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2.", "url": "https://disease-ontology.org/term/DOID:0111805", "evidence": [ { "id": "0111805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111805" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11963", "name": "esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:11963", "evidence": [ { "id": "11963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11963" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:1222", "name": "cartilage disease", "description": "A connective tissue disease that is located_in cartilage.", "url": "https://disease-ontology.org/term/DOID:1222", "evidence": [ { "id": "1222", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1222" } ], "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:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.", "url": "https://disease-ontology.org/term/DOID:13374", "evidence": [ { "id": "13374", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "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:18", "name": "urinary system disease", "description": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.", "url": "https://disease-ontology.org/term/DOID:18", "evidence": [ { "id": "18", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:18" } ], "weight": 0.0 }, { "disease_id": "DOID:182", "name": "calcinosis", "description": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.", "url": "https://disease-ontology.org/term/DOID:182", "evidence": [ { "id": "182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:182" } ], "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:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "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:2033", "name": "communication disorder", "description": "A specific developmental disorder that involves specific developmental disorders of speech and language.", "url": "https://disease-ontology.org/term/DOID:2033", "evidence": [ { "id": "2033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2033" } ], "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: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: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: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: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:540", "name": "strabismus", "description": "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.", "url": "https://disease-ontology.org/term/DOID:540", "evidence": [ { "id": "540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:540" } ], "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:668", "name": "myositis ossificans", "description": "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.", "url": "https://disease-ontology.org/term/DOID:668", "evidence": [ { "id": "668", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:668" } ], "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: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: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:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "weight": 0.0 }, { "disease_id": "DOID:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of store-operated calcium channel activity", "id": "GO:1901341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901341", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "id": "GO:0002043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002043", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of epidermal cell differentiation", "id": "GO:0045606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045606", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell proliferation", "id": "GO:0048660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048660", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport into cytosol", "id": "GO:0010524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010524", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "nephric duct formation", "id": "GO:0072179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072179", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "secondary heart field specification", "id": "GO:0003139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003139", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell proliferation", "id": "GO:1902462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902462", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of cartilage development", "id": "GO:0061035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061035", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of glomerular mesangial cell proliferation", "id": "GO:0072125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072125", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis", "id": "GO:1905312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905312", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "membranous septum morphogenesis", "id": "GO:0003149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003149", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "mesodermal cell fate determination", "id": "GO:0007500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007500", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "specification of animal organ position", "id": "GO:0010159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010159", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of cell fate commitment", "id": "GO:0010453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010453", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation in thymus", "id": "GO:0033085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033085", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "tendon cell differentiation", "id": "GO:0035990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035990", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "deltoid tuberosity development", "id": "GO:0035993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035993", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "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": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of odontogenesis of dentin-containing tooth", "id": "GO:0042487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042487", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "intermediate mesodermal cell differentiation", "id": "GO:0048392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048392", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell differentiation", "id": "GO:0051150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051150", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle fiber development", "id": "GO:0055020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055020", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q06826", "url": "https://www.uniprot.org/uniprotkb/Q06826" } ], "pmid": "" }, { "name": "lens induction in camera-type eye", "id": "GO:0060235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060235", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q32ZG7", "url": "https://www.uniprot.org/uniprotkb/Q32ZG7" } ], "pmid": "" }, { "name": "cellular response to peptidoglycan", "id": "GO:0071224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224", "evidence": [ { "database": "UniProtKB", "id": "Q32ZG7", "url": "https://www.uniprot.org/uniprotkb/Q32ZG7" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-C motif) ligand 5 production", "id": "GO:0071651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071651", "evidence": [ { "database": "UniProtKB", "id": "Q32ZG7", "url": "https://www.uniprot.org/uniprotkb/Q32ZG7" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q32ZG7", "url": "https://www.uniprot.org/uniprotkb/Q32ZG7" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "Q32ZG7", "url": "https://www.uniprot.org/uniprotkb/Q32ZG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32ZG7-1" }, { "uniprot_canonical_ac": "Q32ZH4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q32ZH4", "url": "https://www.uniprot.org/uniprotkb/Q32ZH4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 85, "chemical_mass": 9928.0, "gene_names": "Defb18;BD-18;Defb18", "protein_name": "Beta-defensin 18", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q32ZH4", "url": "https://www.uniprot.org/uniprotkb/Q32ZH4" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q32ZH4", "url": "https://www.uniprot.org/uniprotkb/Q32ZH4" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q32ZH4", "url": "https://www.uniprot.org/uniprotkb/Q32ZH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32ZH4-1" }, { "uniprot_canonical_ac": "Q32ZI0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 69, "chemical_mass": 8078.0, "gene_names": "Defb11;BD-11;Defb11", "protein_name": "Beta-defensin 11", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "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": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "pmid": "" } ], "molecular_function": [ { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI0", "url": "https://www.uniprot.org/uniprotkb/Q32ZI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q32ZI0-1" }, { "uniprot_canonical_ac": "Q32ZI3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 63, "chemical_mass": 6972.0, "gene_names": "Defb5;BD-5;Defb5", "protein_name": "Beta-defensin 5", "disease": [ { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves 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"Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "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": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "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": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q32ZI3", "url": "https://www.uniprot.org/uniprotkb/Q32ZI3" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": 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It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q5BK10", "url": "https://www.uniprot.org/uniprotkb/Q5BK10" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5BK10", "url": "https://www.uniprot.org/uniprotkb/Q5BK10" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q5BK10", "url": "https://www.uniprot.org/uniprotkb/Q5BK10" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5BK10-1" }, { "uniprot_canonical_ac": "Q5BK71-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 173, "chemical_mass": 19156.0, "gene_names": "Arl11;Arl11", "protein_name": "ADP-ribosylation factor-like protein 11", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "Q5BK71", "url": "https://www.uniprot.org/uniprotkb/Q5BK71" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5BK71-1" }, { "uniprot_canonical_ac": "Q5BQE6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 516, "chemical_mass": 60047.0, "gene_names": "Dhcr24;Dhcr24", "protein_name": "Delta(24)-sterol reductase", "disease": [ { "disease_id": "DOID:0070654", "name": "desmosterolosis", "description": "A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32.", "url": "https://disease-ontology.org/term/DOID:0070654", "evidence": [ { "id": "0070654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070654" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "amyloid precursor protein catabolic process", "id": "GO:0042987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042987", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "plasminogen activation", "id": "GO:0031639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031639", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q5BQE6", "url": "https://www.uniprot.org/uniprotkb/Q5BQE6" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": 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Associated with a high risk of carcinoma and has_symptom lesions on the body.", "url": "https://disease-ontology.org/term/DOID:13777", "evidence": [ { "id": "13777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13777" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } 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"https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "negative regulation of megakaryocyte differentiation", "id": "GO:0045653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045653", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "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": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "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": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": 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"id": "GO:2000256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000256", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R010", "url": "https://www.uniprot.org/uniprotkb/Q9R010" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": 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EDS has five cardinal signs, which may be present to some degree in all of the subtypes. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "wound healing, spreading of epidermal cells", "id": "GO:0035313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035313", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "tendon development", "id": "GO:0035989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035989", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "integrin biosynthetic process", "id": "GO:0045112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045112", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "eye morphogenesis", "id": "GO:0048592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048592", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "negative regulation of endodermal cell differentiation", "id": "GO:1903225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903225", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "proteoglycan binding", "id": "GO:0043394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043394", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "collagen type V trimer", "id": "GO:0005588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005588", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9JI03", "url": "https://www.uniprot.org/uniprotkb/Q9JI03" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JI03-1", "start_pos": "1184", 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 281, "chemical_mass": 32042.0, "gene_names": "C1qtnf1;C1qtnf1;Ctrp1", "protein_name": "Complement C1q tumor necrosis factor-related protein 1", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" } ], "biological_process": [ { "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": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "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": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "regulation of glucose metabolic process", "id": "GO:0010906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010906", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "negative regulation of platelet activation", "id": "GO:0010544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010544", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "positive regulation of aldosterone secretion", "id": "GO:2000860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000860", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "negative regulation of platelet aggregation", "id": "GO:0090331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090331", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q5XIG2", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5XIG2-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Asn93", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 93, "start_aa": "Asn", "end_pos": 93, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn93", "evidence": [ { "id": "Q5XIG2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5XIG2#ptm_processing" } ] } ] } ], "record_id": "Q5XIG2-1" }, { "uniprot_canonical_ac": "Q5XI32-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 272, "chemical_mass": 30629.0, "gene_names": "Capzb;Capzb", "protein_name": "F-actin-capping protein subunit beta", "disease": [ { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:674", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.", "url": "https://disease-ontology.org/term/DOID:674", "evidence": [ { "id": "674", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:674" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm head", "id": "GO:0061827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061827", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "WASH complex", "id": "GO:0071203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071203", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", "url": "https://www.uniprot.org/uniprotkb/Q5XI32" } ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q5XI32", 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"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:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:6171", "name": "uterine carcinosarcoma", "description": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.", "url": "https://disease-ontology.org/term/DOID:6171", "evidence": [ { "id": "6171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6171" } ], "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:6846", "name": "familial melanoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6846", "evidence": [ { "id": "6846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6846" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9280", "name": "carbamoyl phosphate synthetase I deficiency disease", "description": "A urea cycle disorder that involves accumulation of ammonia in the blood.", "url": "https://disease-ontology.org/term/DOID:9280", "evidence": [ { "id": "9280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9280" } ], "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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "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": "protein localization to nucleolus", "id": "GO:1902570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902570", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleolus", "id": "GO:1904750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904750", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of nucleocytoplasmic transport", "id": "GO:0046822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046822", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "mitochondrial depolarization", "id": "GO:0051882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051882", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "response to salt stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of immature T cell proliferation in thymus", "id": "GO:0033088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033088", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of protein sumoylation", "id": "GO:0033235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033235", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of signal transduction by p53 class mediator", "id": "GO:1901798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901798", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of proteolysis involved in protein catabolic process", "id": "GO:1903051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903051", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of protein targeting to mitochondrion", "id": "GO:1903214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903214", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000059", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell apoptotic process", "id": "GO:0034393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034393", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in mammary gland involution", "id": "GO:0060058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060058", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "positive regulation of macrophage apoptotic process", "id": "GO:2000111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000111", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "negative regulation of hepatocyte proliferation", "id": "GO:2000346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000346", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic 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}, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "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": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q8QZZ9", "url": "https://www.uniprot.org/uniprotkb/Q8QZZ9" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/Q5XI33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5XI33-1" }, { "uniprot_canonical_ac": "Q6MGB5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6MGB5", "url": "https://www.uniprot.org/uniprotkb/Q6MGB5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 259, "chemical_mass": 26791.0, "gene_names": "Hsd17b8;Fabgl;Hsd17b8;Ke6;RING2", "protein_name": "(3R)-3-hydroxyacyl-CoA dehydrogenase", "disease": [], "biological_process": [ { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "Q6MGB5", "url": "https://www.uniprot.org/uniprotkb/Q6MGB5" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q63517", "url": "https://www.uniprot.org/uniprotkb/Q63517" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63517", "url": "https://www.uniprot.org/uniprotkb/Q63517" } ], "pmid": "" } ], "biological_process": [ { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "Q63517", "url": "https://www.uniprot.org/uniprotkb/Q63517" } ], "pmid": "" }, { "name": "CENP-A containing chromatin assembly", "id": "GO:0034080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034080", "evidence": [ { "database": "UniProtKB", "id": "Q63517", "url": "https://www.uniprot.org/uniprotkb/Q63517" } ], "pmid": "" }, { "name": "mitotic sister chromatid segregation", "id": "GO:0000070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000070", "evidence": [ { "database": "UniProtKB", "id": "Q63517", "url": "https://www.uniprot.org/uniprotkb/Q63517" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q63517-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Thr292", "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": 292, "start_aa": "Thr", "end_pos": 292, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr292", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "Q63517-1" }, { "uniprot_canonical_ac": "Q6AXU9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 557, "chemical_mass": 63304.0, "gene_names": "Cnot6;CCR4;Ccr4;Cnot6;RGD1310783", "protein_name": "CCR4-NOT transcription complex subunit 6", "disease": [ { "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 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "RNA exonuclease activity", "id": "GO:0004532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004532", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "poly(A)-specific ribonuclease activity", "id": "GO:0004535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004535", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "CCR4-NOT complex", "id": "GO:0030014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030014", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "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": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0035279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035279", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "positive regulation of cytoplasmic mRNA processing body assembly", "id": "GO:0010606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010606", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0000289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000289", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": "https://www.uniprot.org/uniprotkb/Q6AXU9" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, no-go decay", "id": "GO:0070966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070966", "evidence": [ { "database": "UniProtKB", "id": "Q6AXU9", "url": 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"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: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: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 } ], "biological_process": [ { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "reactive oxygen species biosynthetic process", "id": "GO:1903409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903409", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cardiac muscle cell contraction", "id": "GO:0086003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086003", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to hydrogen sulfide", "id": "GO:1904880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904880", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "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": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cardiac conduction", "id": "GO:0061337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061337", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to potassium ion", "id": "GO:0035864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035864", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "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": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "oxygen metabolic process", "id": "GO:0072592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072592", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell contraction", "id": "GO:0006932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006932", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "cellular response to chemical stress", "id": "GO:0062197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062197", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "vascular process in circulatory system", "id": "GO:0003018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003018", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "syntaxin binding", "id": "GO:0019905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019905", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": "https://www.uniprot.org/uniprotkb/Q63563" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "Q63563", "url": 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"https://www.alliancegenome.org/disease/DOID:3669" } ], "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: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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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{ "id": "7166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7166" } ], "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:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9965", "name": "toxoplasmosis", "description": "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.", "url": "https://disease-ontology.org/term/DOID:9965", "evidence": [ { "id": "9965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9965" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q63690", 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"https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": 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"https://www.uniprot.org/uniprotkb/Q63690" } ], "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": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": 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development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to salt stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "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": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": 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cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "glycosphingolipid metabolic process", "id": "GO:0006687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006687", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], 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"name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability involved in programmed necrotic cell death", "id": "GO:1902445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902445", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "response to insulin-like growth factor stimulus", "id": "GO:1990418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990418", "evidence": [ { "database": 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"Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "myeloid cell homeostasis", "id": "GO:0002262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002262", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "B cell negative selection", "id": "GO:0002352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002352", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "B cell homeostatic proliferation", "id": "GO:0002358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002358", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "positive regulation of B cell apoptotic process", "id": "GO:0002904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002904", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "regulation of nitrogen utilization", "id": "GO:0006808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006808", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "retinal cell programmed cell death", "id": "GO:0046666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046666", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "positive regulation of developmental pigmentation", "id": "GO:0048087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048087", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "spermatid differentiation", "id": "GO:0048515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048515", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye morphogenesis", "id": "GO:0048597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048597", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "Sertoli cell proliferation", "id": "GO:0060011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060011", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in mammary gland involution", "id": "GO:0060058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060058", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "vagina development", "id": "GO:0060068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060068", "evidence": [ { "database": "UniProtKB", "id": "Q63690", "url": "https://www.uniprot.org/uniprotkb/Q63690" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": 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