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"https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": 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"Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendritic spine organization", "id": "GO:0097061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097061", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendrite arborization", "id": "GO:0140059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140059", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "dendritic spine development", "id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "positive regulation of gap junction assembly", "id": "GO:1903598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903598", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } 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cycle", "id": "GO:0042745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042745", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "walking behavior", "id": "GO:0090659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090659", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "neuromuscular junction development, skeletal muscle fiber", "id": "GO:0098529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098529", "evidence": [ { "database": "UniProtKB", "id": "Q9CPW0", "url": "https://www.uniprot.org/uniprotkb/Q9CPW0" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", 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"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:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8584" } ], "weight": 0.0 }, { "disease_id": "DOID:8955", "name": "sideroblastic anemia", "description": "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).", "url": "https://disease-ontology.org/term/DOID:8955", "evidence": [ { "id": "8955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8955" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine 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"P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "endoplasmic reticulum quality control compartment", "id": "GO:0044322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044322", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum lumen", "id": "GO:0033018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033018", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cortical granule", "id": "GO:0060473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060473", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "MHC class I peptide loading complex", "id": "GO:0042824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cytolytic granule", "id": "GO:0044194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044194", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" } ], "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "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": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ERAD pathway", "id": "GO:0036503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036503", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of trophoblast cell migration", "id": "GO:1901164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901164", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to glycoside", "id": "GO:1903416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903416", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell chemotaxis", "id": "GO:2000510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000510", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class I protein complex", "id": "GO:0002502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002502", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of intracellular steroid hormone receptor signaling pathway", "id": "GO:0033144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033144", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "regulation of meiotic nuclear division", "id": "GO:0040020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040020", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "negative regulation of retinoic acid receptor signaling pathway", "id": "GO:0048387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048387", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "response to biphenyl", "id": "GO:1904614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904614", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" } ], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "complement component C1q complex binding", "id": "GO:0001849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001849", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "nuclear export signal receptor activity", "id": "GO:0005049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005049", "evidence": [ { "database": "UniProtKB", "id": "P14211", "url": "https://www.uniprot.org/uniprotkb/P14211" } ], "pmid": "" }, { "name": "molecular sequestering activity", "id": "GO:0140313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140313", 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"gene_names": "Caprin2;Adir;C1qdc1;Caprin2;Eeg1;Kiaa1873;Rng140;rng140", "protein_name": "Caprin-2", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q05A80", "url": "https://www.uniprot.org/uniprotkb/Q05A80" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q05A80", "url": "https://www.uniprot.org/uniprotkb/Q05A80" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q05A80", "url": "https://www.uniprot.org/uniprotkb/Q05A80" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": 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No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-153, F-174 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Tyr153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. 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No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-101, F-153 and F-188.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Tyr188", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of phosphorylation and loss of interaction with PLCG1, PLCG2 and VAV. No effect on the suppression of natural killer cell activation and suppression of interferon-gamma production; when associated with F-69, F-96, F-101, F-153 and F-174.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZE2", "url": "https://www.uniprot.org/uniprotkb/Q9QZE2" }, { "database": "PubMed", "id": "10744659", "url": "https://glygen.org/publication/PubMed/10744659" }, { "database": "PubMed", "id": "16439675", "url": "https://glygen.org/publication/PubMed/16439675" }, { "database": "PubMed", "id": "11463797", "url": "https://glygen.org/publication/PubMed/11463797" } ] } ] }, { "uniprot_canonical_ac": "Q9QZE2-1", "start_pos": "335", "end_pos": "335", "site_lbl": "Arg335", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of binding to FYB1 and MAP4K1. Reduced tyrosine phosphorylation. 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"id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q8C5W0", "url": "https://www.uniprot.org/uniprotkb/Q8C5W0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { 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], "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": "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: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: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:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "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": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to UV-A", "id": "GO:0070141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070141", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "mammary gland epithelial cell proliferation", "id": "GO:0033598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033598", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "positive regulation of mammary gland epithelial cell proliferation", "id": "GO:0033601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033601", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "response to leptin", "id": "GO:0044321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044321", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "proline-rich region binding", "id": "GO:0070064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070064", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activator activity", "id": "GO:0043539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043539", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase regulator activity", "id": "GO:0016538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016538", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activator activity", "id": "GO:0061575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061575", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25322", "url": "https://www.uniprot.org/uniprotkb/P25322" } ], "pmid": "" }, { "name": 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"DOID:1799", "name": "islet cell tumor", "description": "A pancreatic cancer that is located_in the pancreatic islet cells.", "url": "https://disease-ontology.org/term/DOID:1799", "evidence": [ { "id": "1799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1799" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:7698", "name": "non-functioning pancreatic endocrine tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:7698", "evidence": [ { "id": "7698", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7698" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", 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"reference_species": "Mus musculus [10090]" } ], "length": 2476, "chemical_mass": 278587.0, "gene_names": "Atrx;4833408C14Rik;ATR2;Atrx;DXHXS6677E;HP1-BP38;Hp1bp2;Hp1bp38;MRXS3;RAD54L;Rad54;XH2;Xnp;ZNF-HX", "protein_name": "Chromatin remodeler ATRX", "disease": [ { "disease_id": "DOID:0080982", "name": "X-linked intellectual disability-hypotonic facies syndrome-1", "description": "A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. 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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: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": 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"id": "Q61687", "url": "https://www.uniprot.org/uniprotkb/Q61687" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61687", "url": "https://www.uniprot.org/uniprotkb/Q61687" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q61687", "url": "https://www.uniprot.org/uniprotkb/Q61687" } ], "pmid": "" }, { "name": "helicase activity", "id": "GO:0004386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004386", "evidence": [ { "database": "UniProtKB", "id": "Q61687", "url": "https://www.uniprot.org/uniprotkb/Q61687" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61687", "url": 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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:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. 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response", "id": "GO:0002312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002312", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" }, { "name": "type I interferon receptor binding", "id": "GO:0005132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005132", "evidence": [ { "database": "UniProtKB", "id": "L7MTU6", "url": "https://www.uniprot.org/uniprotkb/L7MTU6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "L7N463-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 57214.0, "gene_names": "Cyp2d34;Cyp2d34", "protein_name": "Cytochrome P450", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:13839", "name": "extrapyramidal and movement disease", "description": "", "url": "https://disease-ontology.org/term/DOID:13839", "evidence": [ { "id": "13839", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13839" } ], "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: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: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: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: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: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: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: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": "aromatase activity", "id": "GO:0070330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070330", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 8,9 epoxidase activity", "id": "GO:0062187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062187", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 11,12 epoxidase activity", "id": "GO:0062188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062188", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "anandamide 14,15 epoxidase activity", "id": "GO:0062189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062189", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "L7N463", "url": "https://www.uniprot.org/uniprotkb/L7N463" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "M0QWB7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 188, "chemical_mass": 20371.0, "gene_names": "Ascl5;AmeloD;Ascl5-ps;Ascl5;Gm197;bHLHa47", "protein_name": "Achaete-scute homolog 5", "disease": [], 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[ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "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": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "M0QWB7", "url": "https://www.uniprot.org/uniprotkb/M0QWB7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "S4R181-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "S4R181", "url": "https://www.uniprot.org/uniprotkb/S4R181" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 449, "chemical_mass": 51140.0, "gene_names": "Ccdc166;2410075B13Rik;Ccdc166", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "S4R181-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Thr370", "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": 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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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O35490", "url": "https://www.uniprot.org/uniprotkb/O35490" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35490", "url": "https://www.uniprot.org/uniprotkb/O35490" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35490", "url": "https://www.uniprot.org/uniprotkb/O35490" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": 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"GO:0071266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071266", "evidence": [ { "database": "UniProtKB", "id": "O35490", "url": "https://www.uniprot.org/uniprotkb/O35490" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35490-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O35490", "url": "https://www.uniprot.org/uniprotkb/O35490" } ] } ] } ], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "O35607-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1038, "chemical_mass": 115020.0, "gene_names": 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"https://www.alliancegenome.org/disease/DOID:14557" } ], "weight": 0.0 }, { "disease_id": "DOID:1681", "name": "heart septal defect", "description": "", "url": "https://disease-ontology.org/term/DOID:1681", "evidence": [ { "id": "1681", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1681" } ], "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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": 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"https://www.uniprot.org/uniprotkb/O35607" } ], "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": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "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": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "lymphangiogenesis", "id": "GO:0001946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001946", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "lymphatic endothelial cell differentiation", "id": "GO:0060836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060836", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "venous blood vessel development", "id": "GO:0060841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060841", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "O35607", "url": "https://www.uniprot.org/uniprotkb/O35607" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": 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{ "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "P35762", "url": "https://www.uniprot.org/uniprotkb/P35762" } ], "pmid": "" }, { "name": "transferrin receptor binding", "id": "GO:1990459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990459", "evidence": [ { "database": "UniProtKB", "id": "P35762", "url": "https://www.uniprot.org/uniprotkb/P35762" } ], "pmid": "" }, { "name": "MHC class II protein binding", "id": "GO:0042289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042289", "evidence": [ { "database": "UniProtKB", "id": "P35762", "url": "https://www.uniprot.org/uniprotkb/P35762" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P35762", "url": "https://www.uniprot.org/uniprotkb/P35762" } ], "pmid": "" } ], "cellular_component": [ { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "leading edge membrane", "id": "GO:0031256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031256", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "storage vacuole", "id": "GO:0000322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000322", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "Golgi transport complex", "id": "GO:0017119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017119", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" } ], "biological_process": [ { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell junction assembly", "id": "GO:0034329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034329", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "establishment of epithelial cell apical/basal polarity", "id": "GO:0045198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045198", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "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": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of intracellular protein transport", "id": "GO:0090316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090316", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "neuropilin signaling pathway", "id": "GO:0038189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038189", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "actin filament branching", "id": "GO:0090135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090135", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "establishment of Golgi localization", "id": "GO:0051683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051683", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "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": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "regulation of attachment of spindle microtubules to kinetochore", "id": "GO:0051988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051988", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P60766", "url": "https://www.uniprot.org/uniprotkb/P60766" } ], "pmid": "" }, { "name": "positive regulation of pinocytosis", "id": 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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: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: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: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: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:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "lipopolysaccharide receptor complex", "id": "GO:0046696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046696", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "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": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to diacyl bacterial lipopeptide", "id": "GO:0071726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071726", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to molecule of bacterial origin", "id": "GO:0002237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002237", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to molecule of bacterial origin", "id": "GO:0071219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071219", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cellular response to triacyl bacterial lipopeptide", "id": "GO:0071727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071727", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "lipopolysaccharide immune receptor activity", "id": "GO:0001875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001875", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" }, { "name": "molecular carrier activity", "id": "GO:0140104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140104", "evidence": [ { "database": "UniProtKB", "id": "P10810", "url": "https://www.uniprot.org/uniprotkb/P10810" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10810-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Asn147", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NVSWATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn147", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 147, "start_aa": "Asn", "end_pos": 147, "end_aa": "Asn", "residue": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "isomerase activity", "id": "GO:0016853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016853", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "G3UXT0", "url": "https://www.uniprot.org/uniprotkb/G3UXT0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "Q5Y4Y6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 464, "chemical_mass": 52020.0, "gene_names": "Gsdma3;Bsk;Dfl;Fgn;Gsdm1l;Gsdm3;GsdmA-3;Gsdma3;Rco2;Rim3", "protein_name": "Gasdermin-A3", "disease": [ { "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 } ], "biological_process": [ { "name": "avascular cornea development in camera-type eye", "id": "GO:0036331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036331", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "negative regulation of timing of anagen", "id": "GO:0051886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051886", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "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": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042633", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q5Y4Y6", "url": "https://www.uniprot.org/uniprotkb/Q5Y4Y6" } ], "pmid": "" }, { "name": "wide pore channel activity", 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222513502" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1108", "end_pos": "1108", "site_lbl": "Thr1108", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152230", "evidence": [ { "id": "rs3388546740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546740" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1109", "end_pos": "1109", "site_lbl": "Val1109", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152227", "evidence": [ { "id": "rs3388550396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550396" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1134", "end_pos": "1134", "site_lbl": "Lys1134", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152151", "evidence": [ { "id": "rs3388556925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556925" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1143", "end_pos": "1143", "site_lbl": "Thr1143", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152124", "evidence": [ { "id": "rs3388550380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550380" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1147", "end_pos": "1147", "site_lbl": "Gln1147", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152111", "evidence": [ { "id": "rs3388556864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556864" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Ala1155", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60152088", "evidence": [ { "id": "rs3388551810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551810" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1178", "end_pos": "1178", "site_lbl": "Ser1178", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148795", "evidence": [ { "id": "rs1132063842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063842" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1183", "end_pos": "1183", "site_lbl": "Leu1183", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148781", "evidence": [ { "id": "rs1135179932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135179932" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1191", "end_pos": "1191", "site_lbl": "Ser1191", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148756", "evidence": [ { "id": "rs259060813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259060813" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1200", "end_pos": "1200", "site_lbl": "Ile1200", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148728", "evidence": [ { "id": "rs3388556426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556426" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1202", "end_pos": "1202", "site_lbl": "Asp1202", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148724", "evidence": [ { "id": "rs3388554952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554952" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Asp1204", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148718", "evidence": [ { "id": "rs3388556168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556168" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1213", "end_pos": "1213", "site_lbl": "Asp1213", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148689", "evidence": [ { "id": "rs251463109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251463109" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1215", "end_pos": "1215", "site_lbl": "Asn1215", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148684", "evidence": [ { "id": "rs3388554206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554206" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Tyr1223", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148660", "evidence": [ { "id": "rs3388556129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556129" } ] }, { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60148661", "evidence": [ { "id": "rs3388555342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555342" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1237", "end_pos": "1237", "site_lbl": "Thr1237", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146567", "evidence": [ { "id": "rs3388552613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388552613" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ala124", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206297", "evidence": [ { "id": "rs228756182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228756182" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1263", "end_pos": "1263", "site_lbl": "Asn1263", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146490", "evidence": [ { "id": "rs3388553574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553574" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146488", "evidence": [ { "id": "rs28039982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039982" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1279", "end_pos": "1279", "site_lbl": "Glu1279", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146442", "evidence": [ { "id": "rs28039984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039984" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60146441", "evidence": [ { "id": "rs3388553625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553625" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1283", "end_pos": "1283", "site_lbl": "Ser1283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60144615", "evidence": [ { "id": "rs28039996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28039996" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1329", "end_pos": "1329", "site_lbl": "Lys1329", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60142123", "evidence": [ { "id": "rs3388551739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551739" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Asn133", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206270", "evidence": [ { "id": "rs265822037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265822037" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Phe1467", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136826", "evidence": [ { "id": "rs3391669742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391669742" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Glu147", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206227", "evidence": [ { "id": "rs3388556939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556939" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1482", "end_pos": "1482", "site_lbl": "Ser1482", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136781", "evidence": [ { "id": "rs3388553601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553601" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1501", "end_pos": "1501", "site_lbl": "Glu1501", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60136724", "evidence": [ { "id": "rs3388550719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550719" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1525", "end_pos": "1525", "site_lbl": "Val1525", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60134050", "evidence": [ { "id": "rs238928734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238928734" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1526", "end_pos": "1526", "site_lbl": "Lys1526", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60134048", "evidence": [ { "id": "rs213603904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213603904" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Glu1559", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60133948", "evidence": [ { "id": "rs3391632219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391632219" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1575", "end_pos": "1575", "site_lbl": "Thr1575", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131400", "evidence": [ { "id": "rs3388555314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555314" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1591", "end_pos": "1591", "site_lbl": "Glu1591", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131353", "evidence": [ { "id": "rs3388551732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551732" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1605", "end_pos": "1605", "site_lbl": "Gln1605", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60131311", "evidence": [ { "id": "rs864283693", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864283693" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1623", "end_pos": "1623", "site_lbl": "Val1623", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129516", "evidence": [ { "id": "rs3391393101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391393101" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1633", "end_pos": "1633", "site_lbl": "Asp1633", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129485", "evidence": [ { "id": "rs3388550739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550739" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1661", "end_pos": "1661", "site_lbl": "Lys1661", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129402", "evidence": [ { "id": "rs3388554982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554982" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1662", "end_pos": "1662", "site_lbl": "Ile1662", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60129400", "evidence": [ { "id": "rs3388556462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556462" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Leu1691", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124205", "evidence": [ { "id": "rs262900826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262900826" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Trp1699", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124179", "evidence": [ { "id": "rs3388556402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388556402" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "1709", "end_pos": "1709", "site_lbl": "His1709", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60124150", "evidence": [ { "id": "rs28040050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28040050" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Thr196", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60199153", "evidence": [ { "id": "rs3388553722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388553722" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Tyr230", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195468", "evidence": [ { "id": "rs864302383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864302383" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Ile237", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195448", "evidence": [ { "id": "rs233803533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233803533" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Ser259", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195381", "evidence": [ { "id": "rs246386778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246386778" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Val25", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60213503", "evidence": [ { "id": "rs3388550427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388550427" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Leu263", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60195370", "evidence": [ { "id": "rs3388557453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557453" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Leu275", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188902", "evidence": [ { "id": "rs28024497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024497" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Trp289", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188860", "evidence": [ { "id": "rs864288464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864288464" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Arg295", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188841", "evidence": [ { "id": "rs28024498", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024498" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Pro304", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60188814", "evidence": [ { "id": "rs28024499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024499" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Thr306", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187758", "evidence": [ { "id": "rs28024507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024507" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187758", "evidence": [ { "id": "rs28024507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024507" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Val311", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187744", "evidence": [ { "id": "rs246385389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246385389" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Ala318", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187722", "evidence": [ { "id": "rs3388555391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388555391" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Arg319", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187719", "evidence": [ { "id": "rs214210971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214210971" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Gly325", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60187702", "evidence": [ { "id": "rs249857424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249857424" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "386", "end_pos": "386", "site_lbl": "His386", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185802", "evidence": [ { "id": "rs28024525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024525" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "392", "end_pos": "392", "site_lbl": "Phe392", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185783", "evidence": [ { "id": "rs257982002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257982002" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "400", "end_pos": "400", "site_lbl": "His400", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60185760", "evidence": [ { "id": "rs3388551781", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388551781" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184886", "evidence": [ { "id": "rs28024535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024535" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184874", "evidence": [ { "id": "rs3388546786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388546786" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Val454", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184793", "evidence": [ { "id": "rs215218650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215218650" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "456", "end_pos": "456", "site_lbl": "Phe456", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184786", "evidence": [ { "id": "rs255713594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255713594" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Leu466", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60184756", "evidence": [ { "id": "rs3388557448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388557448" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Glu505", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60183268", "evidence": [ { "id": "rs28024552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28024552" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Leu50", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206520", "evidence": [ { "id": "rs3388554223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388554223" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Arg553", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182516", "evidence": [ { "id": "rs245389141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245389141" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Arg561", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182493", "evidence": [ { "id": "rs864284428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864284428" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ala56", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60206501", "evidence": [ { "id": "rs256150256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256150256" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Ala574", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182454", "evidence": [ { "id": "rs234753589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234753589" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "575", "end_pos": "575", "site_lbl": "Gln575", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60182450", "evidence": [ { "id": "rs216241163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216241163" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "666", "end_pos": "666", "site_lbl": "Val666", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178818", "evidence": [ { "id": "rs3540345307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540345307" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Gly682", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178770", "evidence": [ { "id": "rs3540366659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540366659" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Arg690", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178745", "evidence": [ { "id": "rs253655024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253655024" } ] } ] }, { "uniprot_canonical_ac": "Q60767-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Asp696", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/macrophage mannose receptor.", "chr_id": "2", "chr_pos": "60178727", "evidence": [ { "id": "rs3388553727", "database": "dbSNP", "url": 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"" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O35379", "url": "https://www.uniprot.org/uniprotkb/O35379" } ], "pmid": "" }, { "name": "ATPase-coupled lipid transmembrane transporter activity", "id": "GO:0034040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034040", "evidence": [ { "database": "UniProtKB", "id": "O35379", "url": "https://www.uniprot.org/uniprotkb/O35379" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "O35379", "url": "https://www.uniprot.org/uniprotkb/O35379" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O35379", "url": "https://www.uniprot.org/uniprotkb/O35379" } ], "pmid": "" }, { 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"kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "iPTMnet", "id": "P97318", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P97318" }, { "database": "PubMed", "id": "12077184", "url": "https://glygen.org/publication/PubMed/12077184" } ] } ] }, { "uniprot_canonical_ac": "P97318-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Ser114", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Abolishes interaction with APLP1.", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] }, { "uniprot_canonical_ac": "P97318-1", "start_pos": "136", "end_pos": "136", "site_lbl": "His136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Greatly impairs interaction with APLP1.", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] }, { "uniprot_canonical_ac": "P97318-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Phe158", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Abolishes interaction with APLP1.", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] }, { "uniprot_canonical_ac": "P97318-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impairs binding to PtdIns(4,5)P2.", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] }, { "uniprot_canonical_ac": "P97318-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Lys82", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes binding to PtdIns(4,5)P2.", "evidence": [ { "database": "UniProtKB", "id": "P97318", "url": "https://www.uniprot.org/uniprotkb/P97318" }, { "database": "PubMed", "id": "12826668", "url": "https://glygen.org/publication/PubMed/12826668" } ] } ] } ], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "Q62406-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 710, "chemical_mass": 77269.0, "gene_names": "Irak1;IRAK-1;IRAK1-S;IRAK1b;IRAK;Il1rak;Irak1;Plpk;mPLK", "protein_name": "Interleukin-1 receptor-associated kinase 1", "disease": [ { "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:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:612", "name": "primary immunodeficiency disease", "description": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.", "url": "https://disease-ontology.org/term/DOID:612", "evidence": [ { "id": "612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:612" } ], "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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 } ], "biological_process": [ { "name": "interleukin-1-mediated signaling pathway", "id": "GO:0070498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070498", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904996", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "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": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "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": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "regulation of cytokine-mediated signaling pathway", "id": "GO:0001959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001959", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "Toll signaling pathway", "id": "GO:0008063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008063", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "toll-like receptor 2 signaling pathway", "id": "GO:0034134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034134", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "interleukin-33-mediated signaling pathway", "id": "GO:0038172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038172", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "response to peptidoglycan", "id": "GO:0032494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032494", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": "https://www.uniprot.org/uniprotkb/Q62406" } ], "pmid": "" }, { "name": "interleukin-1 receptor binding", "id": "GO:0005149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005149", "evidence": [ { "database": "UniProtKB", "id": "Q62406", "url": 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"url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": 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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: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: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: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:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "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: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: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: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": 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"id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q91Y86", "url": "https://www.uniprot.org/uniprotkb/Q91Y86" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": 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"https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "node of Ranvier", "id": "GO:0033268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033268", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "inhibitory synapse", "id": "GO:0060077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060077", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "dystroglycan complex", "id": "GO:0016011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016011", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle acetylcholine-gated channel clustering", "id": "GO:1904395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904395", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "response to denervation involved in regulation of muscle adaptation", "id": "GO:0014894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014894", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "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": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "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": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "microtubule anchoring", "id": "GO:0034453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034453", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "angiogenesis involved in wound healing", "id": "GO:0060055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060055", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial sheet", "id": "GO:0002011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002011", "evidence": [ { "database": 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"id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "inhibitory synapse assembly", "id": "GO:1904862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904862", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "muscle attachment", "id": "GO:0016203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016203", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q62165", "url": "https://www.uniprot.org/uniprotkb/Q62165" } ], "pmid": "" }, { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q62165", 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"sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108086218", "evidence": [ { "id": "rs3389074665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074665" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Pro316", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108086194", "evidence": [ { "id": "rs3389069839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069839" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Ile375", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of 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"108085740", "evidence": [ { "id": "rs3389070730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389070730" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Asn553", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085482", "evidence": [ { "id": "rs3389052275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389052275" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Tyr573", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085422", "evidence": [ { "id": "rs3389074691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074691" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "615", "end_pos": "615", "site_lbl": "Ala615", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085296", "evidence": [ { "id": "rs3389061019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389061019" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "665", "end_pos": "665", "site_lbl": "Glu665", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085145", "evidence": [ { "id": "rs3507926720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507926720" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Ile672", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085126", "evidence": [ { "id": "rs3389066124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066124" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Gly674", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085120", "evidence": [ { "id": "rs3389071651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071651" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Ser676", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085113", "evidence": [ { "id": "rs3389069811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069811" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Ala700", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085041", "evidence": [ { "id": "rs238000346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238000346" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Ile703", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108085032", "evidence": [ { "id": "rs3389070763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389070763" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "721", "end_pos": "721", "site_lbl": "Pro721", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108084978", "evidence": [ { "id": "rs3389066202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066202" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Glu733", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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{ "id": "rs3389048785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048785" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Thr782", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108084795", "evidence": [ { "id": "rs3389074468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389074468" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "809", "end_pos": "809", "site_lbl": "Pro809", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108084714", "evidence": [ { "id": "rs3389066154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066154" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "825", "end_pos": "825", "site_lbl": "Pro825", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108084667", "evidence": [ { "id": "rs3389069816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069816" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Thr82", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108095246", "evidence": [ { "id": "rs3389048753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389048753" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Met834", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108084640", "evidence": [ { "id": "rs49642016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49642016" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Lys93", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108095213", "evidence": [ { "id": "rs3389077140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389077140" } ] } ] }, { "uniprot_canonical_ac": "Q62165-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "9", "chr_pos": "108086857", "evidence": [ { "id": "rs3389082276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389082276" } ] } ] } ], "record_id": "batch.mouse.11" }, { "uniprot_canonical_ac": "Q2KN98-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1118, "chemical_mass": 124488.0, "gene_names": "Specc1l;4930470P14Rik;4932439K10Rik;9530057A13Rik;Cytsa;Kiaa0376;Specc1l;mKIAA0376", "protein_name": "Cytospin-A", "disease": [ { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0080698", "name": "Teebi hypertelorism syndrome 1", "description": "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.", "url": "https://disease-ontology.org/term/DOID:0080698", "evidence": [ { "id": "0080698", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080698" } ], "weight": 0.0 }, { "disease_id": "DOID:0111706", "name": "oblique facial clefting 1", "description": "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23.", "url": "https://disease-ontology.org/term/DOID:0111706", "evidence": [ { "id": "0111706", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111706" } ], "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 } ], "biological_process": [ { "name": "negative regulation of actin filament depolymerization", "id": "GO:0030835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030835", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "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": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q2KN98", "url": "https://www.uniprot.org/uniprotkb/Q2KN98" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of endothelial 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"" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "induction of 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system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "peptidyl-serine autophosphorylation", "id": "GO:0036289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036289", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "cellular response to carbohydrate stimulus", "id": "GO:0071322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071322", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of platelet aggregation", "id": "GO:0090330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090330", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "renal sodium ion absorption", "id": "GO:0070294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070294", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of dense core granule biogenesis", "id": "GO:2000707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000707", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to phorbol 13-acetate 12-myristate", "id": "GO:1904627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904627", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of angiotensin-activated signaling pathway", "id": "GO:0110063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110063", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { 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"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: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: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: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:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads.", "url": "https://disease-ontology.org/term/DOID:1924", "evidence": [ { "id": "1924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5016", "name": "hepatocellular clear cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5016", "evidence": [ { "id": "5016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ], "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: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: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "sexual reproduction", "id": "GO:0019953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019953", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "positive regulation of monoatomic ion transport", "id": "GO:0043270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043270", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "glycerol biosynthetic process", "id": "GO:0006114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006114", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "regulation of endothelial cell proliferation", "id": "GO:0001936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001936", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "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": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", 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The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3462", "name": "hamartoma", "description": "A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.", "url": "https://disease-ontology.org/term/DOID:3462", "evidence": [ { "id": "3462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3462" } ], "weight": 0.0 }, { "disease_id": "DOID:3612", "name": "retinitis", "description": "", "url": "https://disease-ontology.org/term/DOID:3612", "evidence": [ { "id": "3612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3612" } ], "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: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: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: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: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: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: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: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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disability-psychosis-macroorchidism syndrome", "description": "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0060827", "evidence": [ { "id": "0060827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060827" } ], "weight": 0.0 }, { "disease_id": "DOID:0111932", "name": "severe congenital encephalopathy due to MECP2 mutation", "description": "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0111932", "evidence": [ { "id": "0111932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111932" } ], "weight": 0.0 }, { "disease_id": "DOID:1206", "name": "Rett syndrome", "description": "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.", "url": "https://disease-ontology.org/term/DOID:1206", "evidence": [ { "id": "1206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1206" } ], "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: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: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:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "weight": 0.0 } ], "biological_process": [ { "name": "nervous system process involved in regulation of systemic arterial blood pressure", "id": "GO:0001976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001976", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of dendrite extension", "id": "GO:1903861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903861", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "inositol metabolic process", "id": "GO:0006020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006020", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "sensory perception of touch", "id": "GO:0050975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050975", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cellular response to isoquinoline alkaloid", "id": "GO:0071317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071317", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of retrograde dense core granule transport", "id": "GO:1901956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901956", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of branching morphogenesis of a nerve", "id": "GO:1905492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905492", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of primary miRNA processing", "id": "GO:2000635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000635", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "biogenic amine metabolic process", "id": "GO:0006576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", 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"Q80TE7", "url": "https://www.uniprot.org/uniprotkb/Q80TE7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1490, "chemical_mass": 166901.0, "gene_names": "Lrrc7;B230334C09Rik;Kiaa1365;Lap1;Lrrc7;densin;mKIAA1365", "protein_name": "Leucine-rich repeat-containing protein 7", "disease": [ { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q80TE7", "url": "https://www.uniprot.org/uniprotkb/Q80TE7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", 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No effect on interaction with GATA2.", "evidence": [ { "database": "UniProtKB", "id": "Q8BX65", "url": "https://www.uniprot.org/uniprotkb/Q8BX65" }, { "database": "PubMed", "id": "35235341", "url": "https://glygen.org/publication/PubMed/35235341" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "O88491-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88491", "url": "https://www.uniprot.org/uniprotkb/O88491" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2588, "chemical_mass": 284084.0, "gene_names": "Nsd1", "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-36 specific", "disease": [ { "disease_id": "DOID:0112103", "name": "Sotos syndrome 1", "description": "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.", "url": 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"https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "regulation of Wnt signaling pathway", "id": "GO:0030111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030111", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "apoptotic process involved in morphogenesis", "id": "GO:0060561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060561", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": 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"url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050909", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", 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"P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "T cell receptor V(D)J recombination", "id": "GO:0033153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033153", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "anatomical structure regression", "id": "GO:0060033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060033", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": 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} ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Gly263", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69718900", "evidence": [ { "id": "rs3389170947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389170947" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Cys270", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69718879", "evidence": [ { "id": "rs3389167692", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389167692" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "308", "end_pos": "308", 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389170758" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Thr482", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69717759", "evidence": [ { "id": "rs3389170682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389170682" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Val507", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69717685", "evidence": [ { "id": "rs3389174066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389174066" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Glu567", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "VSDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69716840_69716841insAACCATCAC", "evidence": [ { "id": "rs3389143460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389143460" } ] } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Val568", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate esterase.", "chr_id": "11", "chr_pos": "69716838_69716839insTCAACCATCAC", "evidence": [ { "id": "rs3389170545", "database": "dbSNP", "url": 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Loss of phosphorylation; when associated with A-15 and A-19. Loss of calcium sensitivity of force development; when associated with A-15 and A-19. Phosphorylation at Ser-19; when associated with A-15. Significant decrease in phosphorylation by MLCK; when associated with A-15. Adult lethality associated with early defects in cardiac twitch relaxation and torsion leading to dilated cardiomyopathy, heart failure and premature death; when associated with A-15. Significant acceleration of twitch relaxation in absence of changes in calcium transients; when associated with A-15. Absence of transmural phosphorylation gradient leading to alteration of torsion; when associated with A-14.", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "PubMed", "id": "10409661", "url": "https://glygen.org/publication/PubMed/10409661" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" } ] } ] }, { "uniprot_canonical_ac": "P51667-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "iPTMnet", "id": "P51667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51667" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" }, { "database": "PubMed", "id": "20445002", "url": "https://glygen.org/publication/PubMed/20445002" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of cardiac myofibril assembly; when associated with A-14 and A-19. Loss of phosphorylation; when associated with A-14 and A-19. Loss of calcium sensitivity of force development; when associated with A-14 and A-19. Increase of phosphorylation. Phosphorylation at Ser-14 and at Ser-19. Phosphorylation at Ser-19; when associated with A-14. Significant decrease in phosphorylation by MLCK; when associated with A-14. Adult lethality associated with early defects in cardiac twitch relaxation and torsion leading to dilated cardiomyopathy, heart failure and premature death; when associated with A-14. Significant acceleration of twitch relaxation in absence of changes in calcium transients; when associated with A-14. 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"" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of erythrocyte differentiation", "id": "GO:0045646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045646", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "immune response-regulating cell surface receptor signaling pathway", "id": "GO:0002768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002768", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "P25911", 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"P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "histamine secretion by mast cell", "id": "GO:0002553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002553", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of B cell apoptotic process", "id": "GO:0002902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002902", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034144", "evidence": [ { 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"" }, { "name": "positive regulation of dendritic cell apoptotic process", "id": "GO:2000670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000670", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "neuroinflammatory response", "id": "GO:0150076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150076", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "C-X-C chemokine receptor CXCR4 signaling pathway", "id": "GO:0038159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038159", "evidence": [ { "database": "UniProtKB", "id": "P25911", 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"optic vesicle morphogenesis", "id": "GO:0003404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003404", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "optic cup structural organization", "id": "GO:0003409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003409", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "negative regulation of transcription by competitive promoter binding", "id": "GO:0010944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010944", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "trigeminal nerve development", "id": "GO:0021559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021559", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], 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"" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "eyelid development in 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"name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "hematopoietic stem cell differentiation", "id": "GO:0060218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060218", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "urate metabolic process", "id": "GO:0046415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046415", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "embryonic process involved 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"https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "L-tryptophan metabolic process", "id": "GO:0006568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006568", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "urate biosynthetic process", "id": "GO:0034418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034418", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "riboflavin transport", "id": "GO:0032218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032218", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protoporphyrinogen IX metabolic process", "id": "GO:0046501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046501", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "endothelial cell apoptotic process", "id": "GO:0072577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072577", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "xenobiotic transport across blood-brain barrier", "id": "GO:1990962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990962", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "porphyrin-containing compound metabolic process", "id": "GO:0006778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006778", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "connective tissue replacement involved in inflammatory response wound healing", "id": "GO:0002248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002248", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "urate transport", "id": "GO:0015747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015747", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "negative regulation of intestinal absorption", "id": "GO:1904479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904479", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "xenobiotic detoxification by transmembrane export across the plasma membrane", "id": "GO:1990961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990961", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tetrapyrrole metabolic process", "id": "GO:0033013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033013", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "renal urate salt excretion", "id": "GO:0097744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097744", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to bleomycin", "id": "GO:1904975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904975", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to paraquat", "id": "GO:1901562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901562", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "connective tissue replacement", "id": "GO:0097709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097709", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "mesenchymal stem cell differentiation", "id": "GO:0072497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072497", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "neural tissue regeneration", "id": "GO:0097719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097719", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "myofibroblast differentiation", "id": "GO:0036446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036446", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "kynurenic acid metabolic process", "id": "GO:0034275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034275", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "heart capillary growth", "id": "GO:0003248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003248", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "sulfite export across plasma membrane", "id": "GO:0160244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160244", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to alcohol", "id": "GO:0097305", "url": 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"GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", 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"pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" } ], "pmid": "" }, { "name": "positive regulation of DNA metabolic process", "id": "GO:0051054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051054", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": 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Regains appreciable level of catalytic efficiency in the acidic pH range. 40% recovery of activity in the presence of sodium azide.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Arg17", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771520", "evidence": [ { "id": "rs3389521660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521660" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Glu186", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45764583", "evidence": [ { "id": "rs3389558878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389558878" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45764508", "evidence": [ { "id": "rs3389510101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510101" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Val254", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760397", "evidence": [ { "id": "rs3389535701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535701" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Leu303", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760250", "evidence": [ { "id": "rs3389554540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554540" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Arg306", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760240", "evidence": [ { "id": "rs3412964925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412964925" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Glu317", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760208", "evidence": [ { "id": "rs3389543703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543703" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Gln31", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771478", "evidence": [ { "id": "rs248234811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248234811" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Val343", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760130", "evidence": [ { "id": "rs3389535763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535763" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45758633", "evidence": [ { "id": "rs3389521618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521618" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45758570", "evidence": [ { "id": "rs3389521622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521622" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Pro436", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756335", "evidence": [ { "id": "rs3389536557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536557" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Lys457", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756271", "evidence": [ { "id": "rs3389510037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510037" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Val469", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756237", "evidence": [ { "id": "rs3389491605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491605" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Lys471", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756230", "evidence": [ { "id": "rs3389542765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542765" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756200", "evidence": [ { "id": "rs3389544643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544643" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Ile483", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756195", "evidence": [ { "id": "rs3389500044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500044" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756189", "evidence": [ { "id": "rs3389544610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544610" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Val50", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746448", "evidence": [ { "id": "rs3389538147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538147" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756099", "evidence": [ { "id": "rs3389535751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535751" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gly52", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771416", "evidence": [ { "id": "rs249909019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249909019" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Phe538", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756028", "evidence": [ { "id": "rs3389510017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510017" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ala53", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771413", "evidence": [ { "id": "rs232281419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232281419" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Tyr548", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45755998", "evidence": [ { "id": "rs3389547491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389547491" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ala612", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45754038", "evidence": [ { "id": "rs3389500013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500013" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Met622", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45754008", "evidence": [ { "id": "rs3389542768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542768" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Tyr643", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753944", "evidence": [ { "id": "rs3409360243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409360243" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Lys655", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753909", "evidence": [ { "id": "rs3389538153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538153" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Trp660", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753894", "evidence": [ { "id": "rs3389543695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543695" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ile673", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45750676", "evidence": [ { "id": "rs3389510020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510020" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771553", "evidence": [ { "id": "rs36481011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36481011" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Leu755", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746534_45746535insCTCCACACTACCTCAACCATCA", "evidence": [ { "id": "rs3389536532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536532" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Phe768", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746495", "evidence": [ { "id": "rs3389521612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521612" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Glu771", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746485", "evidence": [ { "id": "rs3389554606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554606" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Val784", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746448", "evidence": [ { "id": "rs3389538147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538147" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Pro788", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746435", "evidence": [ { "id": "rs3389544560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544560" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Met845", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45743125", "evidence": [ { "id": "rs3389450593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450593" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Gln86", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45767119", "evidence": [ { "id": "rs3389538098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538098" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Asn871", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45743047", "evidence": [ { "id": "rs3389542779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542779" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asp174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "2-fold increase in substrate affinity and 77% reduction in O-GlcNAcase activity. Regains appreciable level of catalytic efficiency in the acidic pH range. No recovery of activity in the presence of sodium azide.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asp175", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "3-fold increase in substrate affinity and 90% reduction in O-GlcNAcase activity. Regains appreciable level of catalytic efficiency in the acidic pH range. 70% recovery of activity in the presence of sodium azide.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "878", "end_pos": "878", "site_lbl": "Cys878", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on O-GlcNAcase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q9R061-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R061", "url": 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body morphogenesis", "id": "GO:0010172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010172", "evidence": [ { "database": "UniProtKB", "id": "Q8CHY6", "url": "https://www.uniprot.org/uniprotkb/Q8CHY6" } ], "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": "Q8CHY6", "url": "https://www.uniprot.org/uniprotkb/Q8CHY6" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8CHY6", "url": "https://www.uniprot.org/uniprotkb/Q8CHY6" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q8CHY6", "url": "https://www.uniprot.org/uniprotkb/Q8CHY6" } ], "pmid": "" }, { "name": 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}, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of peptide secretion", "id": "GO:0002793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002793", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of glomerular filtration", "id": "GO:0003093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003093", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of glutamate secretion", "id": "GO:0014050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014050", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of nucleoside transport", "id": "GO:0032244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032244", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of neurotrophin production", "id": "GO:0032900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032900", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0042323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042323", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic depression", "id": "GO:1900453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900453", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling 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"url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": 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"description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": "https://www.uniprot.org/uniprotkb/P22599" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": "https://www.uniprot.org/uniprotkb/P22599" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": 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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": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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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: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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of glutamate secretion", "id": "GO:0014049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014049", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of acetylcholine secretion, neurotransmission", "id": "GO:0014057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014057", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of norepinephrine secretion", "id": "GO:0014061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014061", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045938", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell activation", "id": "GO:0046636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046636", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor signaling pathway", "id": "GO:0001973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001973", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "inhibition of non-skeletal tissue mineralization", "id": "GO:0140928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140928", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor activity", "id": "GO:0001609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001609", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "type 5 metabotropic glutamate receptor binding", "id": "GO:0031802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031802", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60613-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "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": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "Q60613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60613#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60613-1", "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": "Q60613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60613#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q6PAT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 349, "chemical_mass": 37517.0, "gene_names": "Adat3;A430024H01Rik;Adat3", "protein_name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3", "disease": [ { "disease_id": "DOID:0081099", "name": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0081099", "evidence": [ { "id": "0081099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081099" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": 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Reduces neuronal migration in the embryonic cortex.", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" }, { "database": "PubMed", "id": "34057470", "url": "https://glygen.org/publication/PubMed/34057470" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Does not affect tRNA-binding activity. Reduces neuronal migration in the embryonic cortex.", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" }, { "database": "PubMed", "id": "34057470", "url": "https://glygen.org/publication/PubMed/34057470" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Does not affect tRNA binding or solubility but the ADAT2-ADAT3 heterodimer displays reduced deamination activity. Perturbs but does not prevent folding of the ADAT3 N-terminal domain. Reduces neuronal migration in the embryonic cortex. 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Abolishes N-glycosylation; when associated with Q-585.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "15054092", "url": "https://glygen.org/publication/PubMed/15054092" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ile266", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "17", "chr_pos": "84978660", "evidence": [ { "id": "rs3389476103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389476103" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ile194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "No effect on cholesterol and sitosterol transport activity; when associated with G-196.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "No effect on cholesterol and sitosterol transport activity; when associated with V-194.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Gly197", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "No effect on cholesterol and sitosterol transport activity. Mildly reduced expression of ABCG5 and ABCG8.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Glu219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Decreases expression of both ABCG5 and ABCG8. Disrupts sterol transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Strongly decreases expression of both ABCG5 and ABCG8. Disrupts sterol transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes palmitoylation. No effect on function and subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "18402465", "url": "https://glygen.org/publication/PubMed/18402465" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Lys93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Disrupts sterol transport activity. Decreases expression of both ABCG5 and ABCG8.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" }, { "database": "PubMed", "id": "16867993", "url": "https://glygen.org/publication/PubMed/16867993" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Strongly reduces cholesterol transport activity, but has little effect on biliary secretion of campesterol and sitosterol. 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"description": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake 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. 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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:12399", "name": "pathological gambling", "description": "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.", "url": "https://disease-ontology.org/term/DOID:12399", "evidence": [ { "id": "12399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12399" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:252", "name": "alcoholic psychosis", "description": "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.", "url": "https://disease-ontology.org/term/DOID:252", "evidence": [ { "id": "252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:252" } ], "weight": 0.0 }, { "disease_id": "DOID:2537", "name": "inflammatory and toxic neuropathy", "description": "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.", "url": "https://disease-ontology.org/term/DOID:2537", "evidence": [ { "id": "2537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2537" } ], "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: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: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: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: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: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: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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor complex", "id": "GO:0098666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098666", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" } ], "biological_process": [ { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "serotonin receptor signaling pathway", "id": "GO:0007210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007210", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol biosynthetic process", "id": "GO:0010513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010513", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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organization", "id": "GO:1904411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904411", "evidence": [ { "database": "UniProtKB", "id": "Q64343", "url": "https://www.uniprot.org/uniprotkb/Q64343" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q64343", "url": "https://www.uniprot.org/uniprotkb/Q64343" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q64343", "url": "https://www.uniprot.org/uniprotkb/Q64343" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q64343", "url": "https://www.uniprot.org/uniprotkb/Q64343" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": 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response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "angiotensin-mediated drinking behavior", "id": "GO:0003051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003051", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "receptor-mediated virion attachment to host cell", "id": "GO:0046813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046813", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "positive regulation of gap junction assembly", "id": "GO:1903598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903598", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { 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"database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "peptidyl-dipeptidase activity", "id": "GO:0008241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008241", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "transporter activator activity", "id": "GO:0141109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141109", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": 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"https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "ketosteroid monooxygenase activity", "id": "GO:0047086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity", "id": "GO:0047115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047115", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": 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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. 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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": "peristalsis", "id": "GO:0030432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030432", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "operant conditioning", "id": "GO:0035106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035106", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "ovarian follicle rupture", "id": "GO:0001543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001543", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of renal output by angiotensin", "id": "GO:0002019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002019", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by circulatory renin-angiotensin", "id": "GO:0001991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001991", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "renin-angiotensin regulation of aldosterone production", "id": "GO:0002018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002018", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002033", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "brain renin-angiotensin system", "id": "GO:0002035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002035", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "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": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", 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"" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "POU domain binding", "id": "GO:0070974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070974", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "DNA-binding transcription 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lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" } ], "biological_process": [ { "name": "adenylate 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"id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle contraction", "id": "GO:0055118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055118", "evidence": [ { "database": "UniProtKB", "id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "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": "P25962", "url": "https://www.uniprot.org/uniprotkb/P25962" } ], "pmid": "" }, { "name": "heat generation", "id": "GO:0031649", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell contraction", "id": "GO:0061874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061874", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "juxtaglomerular apparatus development", "id": "GO:0072051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072051", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "smooth muscle contractile fiber", "id": "GO:0030485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030485", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62737-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Asn14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G76370VV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MCEEEDSTALVCDNGSGLCKAGFAGDDAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060200", "name": "amyotrophic lateral sclerosis type 9", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.", "url": "https://disease-ontology.org/term/DOID:0060200", "evidence": [ { "id": "0060200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060200" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": 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organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": 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"" }, { "name": "epinephrine binding", "id": "GO:0051379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051379", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "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": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": 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"" } ], "biological_process": [ { "name": "long-chain fatty acid catabolic process", "id": "GO:0042758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042758", "evidence": [ { "database": "UniProtKB", "id": "Q9D8B1", "url": "https://www.uniprot.org/uniprotkb/Q9D8B1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q9D9L5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D9L5", "url": "https://www.uniprot.org/uniprotkb/Q9D9L5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 41616.0, "gene_names": "Actrt2;1700052K15Rik;Actrt2;Arp-T2;Arpm2", "protein_name": "Actin-related protein T2", "disease": [ { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in 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"molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "Q9D9L5", "url": "https://www.uniprot.org/uniprotkb/Q9D9L5" } ], "pmid": "" } ], "cellular_component": [ { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9D9L5", "url": "https://www.uniprot.org/uniprotkb/Q9D9L5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q9ESW4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ESW4", "url": "https://www.uniprot.org/uniprotkb/Q9ESW4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 421, "chemical_mass": 46976.0, "gene_names": "Agk;2610037M15Rik;6720408I04Rik;Agk;Mulk", "protein_name": "Acylglycerol kinase, mitochondrial", "disease": [ { "disease_id": "DOID:0080132", "name": "Sengers syndrome", "description": "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.", "url": "https://disease-ontology.org/term/DOID:0080132", "evidence": [ { "id": "0080132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080132" } ], "weight": 0.0 }, { "disease_id": "DOID:0110245", "name": "cataract 38", "description": "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.", "url": "https://disease-ontology.org/term/DOID:0110245", "evidence": [ { "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046512", "evidence": [ { "database": "UniProtKB", "id": "Q9ESW4", "url": "https://www.uniprot.org/uniprotkb/Q9ESW4" } ], "pmid": "" }, { "name": "glycerolipid metabolic process", "id": "GO:0046486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046486", "evidence": [ { "database": "UniProtKB", "id": "Q9ESW4", "url": "https://www.uniprot.org/uniprotkb/Q9ESW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "lipid kinase activity", "id": "GO:0001727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001727", "evidence": [ { "database": "UniProtKB", "id": "Q9ESW4", "url": "https://www.uniprot.org/uniprotkb/Q9ESW4" } ], "pmid": "" }, { "name": "ceramide kinase activity", "id": "GO:0001729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001729", "evidence": [ { "database": "UniProtKB", "id": "Q9ESW4", "url": "https://www.uniprot.org/uniprotkb/Q9ESW4" } ], "pmid": "" }, { "name": "ATP-dependent diacylglycerol kinase activity", "id": 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"reference_species": "Mus musculus [10090]" } ], "length": 467, "chemical_mass": 52956.0, "gene_names": "Adamdec1;2210414L24Rik;Adamdec1;Dcsn", "protein_name": "ADAM DEC1", "disease": [], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q9R0X2", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": 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"database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0X2-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Asn61", "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": 61, "start_aa": "Asn", "end_pos": 61, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn61", "evidence": [ { "id": "Q9R0X2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9R0X2#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9R0X2-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Arg134", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAR->NAS).", "chr_id": "14", "chr_pos": "68814574_68814575insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3389342189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389342189" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q9R144-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R144", "url": "https://www.uniprot.org/uniprotkb/Q9R144" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 448, "chemical_mass": 50476.0, "gene_names": "Prmt2;Hrmt1l1", "protein_name": "Protein arginine N-methyltransferase 2", "disease": [ { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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. 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"K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 76, "start_aa": "Lys", "end_pos": 76, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys76", "evidence": [ { "id": "Q02105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02105#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q02105-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Pro154", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "4", "chr_pos": "136617635", "evidence": [ { "id": "rs219045985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219045985" } ] } ] }, { "uniprot_canonical_ac": "Q02105-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Tyr225", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "4", "chr_pos": "136617421", "evidence": [ { "id": "rs3388717071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717071" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q04211-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 158, "chemical_mass": 17682.0, "gene_names": "Btg2;APRO1;Btg2;Pc3;TIS21;Tis21", "protein_name": "Protein BTG2", "disease": [ { "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: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: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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 } ], "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": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "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": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "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": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "cellular response to phorbol 13-acetate 12-myristate", "id": "GO:1904628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904628", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of neural precursor cell proliferation", "id": "GO:2000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000178", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04211-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ] } ] }, { "uniprot_canonical_ac": "Q04211-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q2VLH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1121, "chemical_mass": 120921.0, "gene_names": "Cd163;CD163v2;CD163v3;Cd163;M130", "protein_name": "Scavenger receptor cysteine-rich type 1 protein M130", "disease": [ { "disease_id": "DOID:0050120", "name": "hemophagocytic lymphohistiocytosis", "description": "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.", "url": "https://disease-ontology.org/term/DOID:0050120", "evidence": [ { "id": "0050120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050120" } ], "weight": 0.0 }, { "disease_id": "DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11077", "name": "brucellosis", "description": "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.", "url": "https://disease-ontology.org/term/DOID:11077", "evidence": [ { "id": "11077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11077" } ], "weight": 0.0 }, { "disease_id": "DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13254", "name": "diverticulitis of colon", "description": "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.", "url": "https://disease-ontology.org/term/DOID:13254", "evidence": [ { "id": "13254", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13254" } ], "weight": 0.0 }, { "disease_id": "DOID:2280", "name": "hidradenitis suppurativa", "description": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.", "url": "https://disease-ontology.org/term/DOID:2280", "evidence": [ { "id": "2280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2280" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4325", "name": "Ebola virus disease", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.", "url": "https://disease-ontology.org/term/DOID:4325", "evidence": [ { "id": "4325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4325" } ], "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:8476", "name": "Whipple disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8476", "evidence": [ { "id": "8476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8476" } ], "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: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: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:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "biological_process": [ { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "Q2VLH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "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": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "Q2VLH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LAGGENNCSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Asn834", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2428", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2428" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2428", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2428" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LTNEAHKENCTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Asn872", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49018RC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QLGCADNGTVKPIPSDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 872, "start_aa": "Asn", "end_pos": 872, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn872", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q3KQP7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 186, "chemical_mass": 21131.0, "gene_names": "1700028K03Rik;Spo16;1700028K03Rik;SCRE;Scre;Spo16", "protein_name": "Protein SPO16 homolog", "disease": [], "biological_process": [ { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q3URV1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1296, "chemical_mass": 148061.0, "gene_names": "Tbc1d32;Bromi;C6orf170;D630037F22Rik;Tbc1d32;b2b2284Clo", "protein_name": "Protein broad-minded", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "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:0060382", "name": "orofaciodigital syndrome IX", "description": "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.", "url": "https://disease-ontology.org/term/DOID:0060382", "evidence": [ { "id": "0060382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060382" } ], "weight": 0.0 }, { "disease_id": "DOID:14679", "name": "VACTERL association", "description": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "url": "https://disease-ontology.org/term/DOID:14679", "evidence": [ { "id": "14679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14679" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "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": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "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": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q3UZ09-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 53435.0, "gene_names": "C1rl;C1r-LP;C1rl1;C1rlp;C1rl", "protein_name": "Complement C1r subcomponent-like protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UZ09-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Asn358", "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": 358, "start_aa": "Asn", "end_pos": 358, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn358", "evidence": [ { "id": "Q3UZ09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ09-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Asn293", "weight": 0.0, "snv": [ { 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.12" }, { "uniprot_canonical_ac": "Q4KKZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4KKZ1", "url": "https://www.uniprot.org/uniprotkb/Q4KKZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 23026.0, "gene_names": "Cfap107;1700012P22Rik;Cfap107", "protein_name": "Cilia- and flagella-associated protein 107", "disease": [], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q4KKZ1", "url": "https://www.uniprot.org/uniprotkb/Q4KKZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": 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"chemical_mass": 34031.0, "gene_names": "Cdk5r1;Cdk5r1;Cdk5r;D11Bwg0379e;Nck5a;p25;p35", "protein_name": "Cyclin-dependent kinase 5 activator 1", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.", "url": "https://disease-ontology.org/term/DOID:0050453", "evidence": [ { "id": "0050453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050453" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "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": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": 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"site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 788, "start_aa": "Asn", "end_pos": 788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn788", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2754", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2754" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 788, "start_aa": "Asn", "end_pos": 788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn788", "evidence": [ { "id": "Q80YX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80YX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Thr80", "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": 80, "start_aa": "Thr", "end_pos": 80, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr80", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Thr905", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Thr1121", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->NFR); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919060", "evidence": [ { "id": "rs3388678480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678480" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1868", "end_pos": "1868", "site_lbl": "Ser1868", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SGS->NGS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63885498", "evidence": [ { "id": "rs256631933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256631933" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Lys797", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KVT->NVT); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63931318", "evidence": [ { "id": "rs3388683815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683815" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Ser908", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SIT->NIT); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63926056", "evidence": [ { "id": "rs27903972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903972" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Phe1004", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924686", "evidence": [ { "id": "rs246212677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246212677" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Glu1044", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924567", "evidence": [ { "id": "rs3388683770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683770" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1054", "end_pos": "1054", "site_lbl": "Ile1054", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924536", "evidence": [ { "id": "rs27903991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903991" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938523", "evidence": [ { "id": "rs3388687577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687577" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Thr1083", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919175", "evidence": [ { "id": "rs27904045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904045" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Lys1135", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919019", "evidence": [ { "id": "rs3388693340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693340" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Val1136", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919015", "evidence": [ { "id": "rs225874526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225874526" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Val1142", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918997", "evidence": [ { "id": "rs3388694176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388694176" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1148", "end_pos": "1148", "site_lbl": "Ala1148", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918979", "evidence": [ { "id": "rs3388694217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388694217" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Arg1149", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918976", "evidence": [ { "id": "rs3542341300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542341300" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Glu1159", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918947", "evidence": [ { "id": "rs27904046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904046" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Thr1160", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918943", "evidence": [ { "id": "rs3394386938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394386938" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1221", "end_pos": "1221", "site_lbl": "Asp1221", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918249", "evidence": [ { "id": "rs3388678412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678412" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Pro1223", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918243", "evidence": [ { "id": "rs258835162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258835162" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1244", "end_pos": "1244", "site_lbl": "Thr1244", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918179", "evidence": [ { "id": "rs5526679634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526679634" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1255", "end_pos": "1255", "site_lbl": "Asp1255", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63914046", "evidence": [ { "id": "rs3542351298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542351298" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1295", "end_pos": "1295", "site_lbl": "Asn1295", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913928", "evidence": [ { "id": "rs3388684834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684834" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1299", "end_pos": "1299", "site_lbl": "Ala1299", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913916", "evidence": [ { "id": "rs27904065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904065" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Arg1309", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913884", "evidence": [ { "id": "rs3388684879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684879" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Glu130", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938448", "evidence": [ { "id": "rs3388693267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693267" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1312", "end_pos": "1312", "site_lbl": "Asp1312", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913876", "evidence": [ { "id": "rs3388684821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684821" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1336", "end_pos": "1336", "site_lbl": "Pro1336", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913804", "evidence": [ { "id": "rs214277777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214277777" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Thr1370", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63911462", "evidence": [ { "id": "rs212624458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212624458" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938416", "evidence": [ { "id": "rs3388683773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683773" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1449", "end_pos": "1449", "site_lbl": "Thr1449", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902930", "evidence": [ { "id": "rs3413055726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413055726" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Thr1459", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902900", "evidence": [ { "id": "rs3388683755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683755" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1464", "end_pos": "1464", "site_lbl": "Ala1464", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902886", "evidence": [ { "id": "rs3388692285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692285" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Val1473", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902859", "evidence": [ { "id": "rs3388687679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687679" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1485", "end_pos": "1485", "site_lbl": "Thr1485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902822", "evidence": [ { "id": "rs27919103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27919103" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Tyr1504", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902765", "evidence": [ { "id": "rs3388679144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679144" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1514", "end_pos": "1514", "site_lbl": "Gly1514", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902736", "evidence": [ { "id": "rs3388685263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685263" } ] }, { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902736", "evidence": [ { "id": "rs3388685263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685263" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1521", "end_pos": "1521", "site_lbl": "Arg1521", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902713", "evidence": [ { "id": "rs3394341843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394341843" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1532", "end_pos": "1532", "site_lbl": "Val1532", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901145", "evidence": [ { "id": "rs3393811835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393811835" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1547", "end_pos": "1547", "site_lbl": "Leu1547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901100", "evidence": [ { "id": "rs3388690527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690527" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1550", "end_pos": "1550", "site_lbl": "Thr1550", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901091", "evidence": [ { "id": "rs3394064534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394064534" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1566", "end_pos": "1566", "site_lbl": "Thr1566", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901043", "evidence": [ { "id": "rs235089092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235089092" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Lys1568", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901038", "evidence": [ { "id": "rs3388693334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693334" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1576", "end_pos": "1576", "site_lbl": "Ser1576", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901014", "evidence": [ { "id": "rs219264290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219264290" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1604", "end_pos": "1604", "site_lbl": "Arg1604", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63900929", "evidence": [ { "id": "rs5526653273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526653273" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1614", "end_pos": "1614", "site_lbl": "Ile1614", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63900899", "evidence": [ { "id": "rs5526653269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526653269" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1622", "end_pos": "1622", "site_lbl": "Pro1622", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894793", "evidence": [ { "id": "rs3394337773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394337773" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Asp1629", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894771", "evidence": [ { "id": "rs3393811895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393811895" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1638", "end_pos": "1638", "site_lbl": "Ser1638", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894745", "evidence": [ { "id": "rs253284398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253284398" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1643", "end_pos": "1643", "site_lbl": "Thr1643", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894730", "evidence": [ { "id": "rs3542381686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542381686" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1652", "end_pos": "1652", "site_lbl": "Thr1652", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894703", "evidence": [ { "id": "rs3388687632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687632" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1671", "end_pos": "1671", "site_lbl": "Thr1671", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893546", "evidence": [ { "id": "rs3388688675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688675" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1672", "end_pos": "1672", "site_lbl": "Glu1672", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893543", "evidence": [ { "id": "rs264514386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264514386" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1685", "end_pos": "1685", "site_lbl": "Arg1685", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893504", "evidence": [ { "id": "rs219369593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219369593" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1686", "end_pos": "1686", "site_lbl": "Val1686", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893502", "evidence": [ { "id": "rs3542414166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542414166" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Met1691", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893487", "evidence": [ { "id": "rs250326945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250326945" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1724", "end_pos": "1724", "site_lbl": "Ala1724", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63890983", "evidence": [ { "id": "rs3388683778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683778" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1833", "end_pos": "1833", "site_lbl": "Val1833", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63888568", "evidence": [ { "id": "rs3388683736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683736" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1891", "end_pos": "1891", "site_lbl": "Arg1891", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63884876", "evidence": [ { "id": "rs3388687740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687740" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asp189", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936369", "evidence": [ { "id": "rs3413002758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413002758" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1936", "end_pos": "1936", "site_lbl": "Leu1936", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63883910", "evidence": [ { "id": "rs3388693303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693303" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1981", "end_pos": "1981", "site_lbl": "Leu1981", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882952", "evidence": [ { "id": "rs3388693276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693276" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2000", "end_pos": "2000", "site_lbl": "Ser2000", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882894", "evidence": [ { "id": "rs214964861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214964861" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2008", "end_pos": "2008", "site_lbl": "Tyr2008", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882869", "evidence": [ { "id": "rs3388688650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688650" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2009", "end_pos": "2009", "site_lbl": "Lys2009", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882868", "evidence": [ { "id": "rs3388669525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669525" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Ala2019", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882837", "evidence": [ { "id": "rs3388690922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690922" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2027", "end_pos": "2027", "site_lbl": "Asn2027", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880367", "evidence": [ { "id": "rs3388687705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687705" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2055", "end_pos": "2055", "site_lbl": "Tyr2055", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880282", "evidence": [ { "id": "rs3388692294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692294" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2063", "end_pos": "2063", "site_lbl": "Leu2063", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880259", "evidence": [ { "id": "rs3388678467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678467" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2080", "end_pos": "2080", "site_lbl": "His2080", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63878763", "evidence": [ { "id": "rs3394366350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394366350" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gly248", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936192", "evidence": [ { "id": "rs27903909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903909" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Glu259", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936158", "evidence": [ { "id": "rs251952318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251952318" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "260", "end_pos": "260", "site_lbl": "His260", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936157", "evidence": [ { "id": "rs3388684863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684863" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Glu308", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936012", "evidence": [ { "id": "rs3388693357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693357" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ile326", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935959", "evidence": [ { "id": "rs254361473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254361473" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Glu334", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935934", "evidence": [ { "id": "rs3388683807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683807" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asp349", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935890", "evidence": [ { "id": "rs3388679174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679174" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Gln360", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935855", "evidence": [ { "id": "rs3388688674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688674" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Cys381", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935793", "evidence": [ { "id": "rs3388686584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686584" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Asn410", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935706", "evidence": [ { "id": "rs27903911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903911" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935697", "evidence": [ { "id": "rs27903912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903912" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Val450", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935586", "evidence": [ { "id": "rs3388687736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687736" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Phe460", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935557", "evidence": [ { "id": "rs3388690516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690516" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Asp495", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935450", "evidence": [ { "id": "rs3388688676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688676" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Pro502", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935431", "evidence": [ { "id": "rs3388688696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688696" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gln515", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935392", "evidence": [ { "id": "rs3388693294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693294" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935367", "evidence": [ { "id": "rs27903916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903916" } ] }, { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935367", "evidence": [ { "id": "rs27903916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903916" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ile53", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938681", "evidence": [ { "id": "rs256596814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256596814" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Gln546", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935298", "evidence": [ { "id": "rs3388679124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679124" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Cys558", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935262", "evidence": [ { "id": "rs3388690942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690942" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Lys559", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935259", "evidence": [ { "id": "rs3388669541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669541" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Asp566", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935237", "evidence": [ { "id": "rs27903917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903917" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ile579", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935200", "evidence": [ { "id": "rs3388687758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687758" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Gly586", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935178", "evidence": [ { "id": "rs3413155275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413155275" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Cys598", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935143", "evidence": [ { "id": "rs3388683802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683802" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Pro59", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938662", "evidence": [ { "id": "rs3388687591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687591" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Gln603", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935127", "evidence": [ { "id": "rs3388687593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687593" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Met60", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938658", "evidence": [ { "id": "rs27903895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903895" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Gly617", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935086", "evidence": [ { "id": "rs3388690469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690469" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938656", "evidence": [ { "id": "rs3388692203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692203" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ile630", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933375", "evidence": [ { "id": "rs3388687671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687671" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Glu636", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "VSSVT*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933356_63933357insAAGTAACAGAGG", "evidence": [ { "id": "rs3394367534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394367534" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Val639", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933348", "evidence": [ { "id": "rs3388686596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686596" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ile654", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933302", "evidence": [ { "id": "rs3413158153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413158153" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Thr657", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933293", "evidence": [ { "id": "rs3388686617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686617" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Asp673", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933245", "evidence": [ { "id": "rs3410297702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410297702" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933246", "evidence": [ { "id": "rs3394367496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394367496" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Thr675", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933240", "evidence": [ { "id": "rs3394294492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394294492" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Arg680", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933224", "evidence": [ { "id": "rs216820440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216820440" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Arg700", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933165", "evidence": [ { "id": "rs3394323389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394323389" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ile702", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933158", "evidence": [ { "id": "rs3394183875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394183875" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Val704", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933152", "evidence": [ { "id": "rs3394183869", "database": "dbSNP", 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"evidence": [ { "database": "UniProtKB", "id": "Q9DC40", "url": "https://www.uniprot.org/uniprotkb/Q9DC40" } ] } ] }, { "uniprot_canonical_ac": "Q9DC40-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Ser837", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DC40", "url": "https://www.uniprot.org/uniprotkb/Q9DC40" } ] } ] }, { "uniprot_canonical_ac": "Q9DC40-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Leu395", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Does not inhibit interaction with TTI1 or TTI2. 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] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Arg146", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090589", "evidence": [ { "id": "rs1134482369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134482369" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Glu163", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119092455", "evidence": [ { "id": "rs3388702080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702080" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Lys164", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119092459", "evidence": [ { "id": "rs3388710034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388710034" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Ala16", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090200", "evidence": [ { "id": "rs5526819055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526819055" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "208", "end_pos": "208", "site_lbl": "His208", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119092590", "evidence": [ { "id": "rs216354237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216354237" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Tyr238", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094058", "evidence": [ { "id": "rs3388685571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685571" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Val23", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090221", "evidence": [ { "id": "rs244868912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244868912" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Glu244", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094076", "evidence": [ { "id": "rs229608925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229608925" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asp254", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094106", "evidence": [ { "id": "rs3388685600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685600" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asp256", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094114", "evidence": [ { "id": "rs3388708542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708542" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119095104", "evidence": [ { "id": "rs3542692938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542692938" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Lys297", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119095134", "evidence": [ { "id": "rs3388705486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705486" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Thr329", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119095878", "evidence": [ { "id": "rs3388704455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388704455" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Pro393", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098402", "evidence": [ { "id": "rs3388704394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388704394" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Leu406", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098715", "evidence": [ { "id": "rs3388708207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708207" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Glu423", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098914", "evidence": [ { "id": "rs3388705512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705512" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Glu430", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098914", "evidence": [ { "id": "rs3388705512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705512" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Val445", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098980", "evidence": [ { "id": "rs27509099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27509099" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ser446", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098984", "evidence": [ { "id": "rs27509098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27509098" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Thr449", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098993", "evidence": [ { "id": "rs3388705503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705503" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090295", "evidence": [ { "id": "rs51055369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51055369" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Val548", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119102217", "evidence": [ { "id": "rs3388709711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388709711" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Ser578", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103834", "evidence": [ { "id": "rs5526822993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526822993" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Ser585", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103834", "evidence": [ { "id": "rs5526822993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526822993" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Glu599", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103897", "evidence": [ { "id": "rs3388702493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702493" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ile604", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103912", "evidence": [ { "id": "rs3388708579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708579" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Glu606", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103897", "evidence": [ { "id": "rs3388702493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702493" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Ala609", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103927", "evidence": [ { "id": "rs3388686971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686971" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "627", "end_pos": "627", "site_lbl": "Gly627", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119104359", "evidence": [ { "id": "rs3394811109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394811109" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Pro703", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105131", "evidence": [ { "id": "rs3388705956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705956" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "706", "end_pos": "706", "site_lbl": "Val706", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105139", "evidence": [ { "id": "rs3388696592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388696592" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Asp716", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105170", "evidence": [ { "id": "rs32766012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32766012" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Gly719", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105179", "evidence": [ { "id": "rs3388705994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705994" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Leu728", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105206", "evidence": [ { "id": "rs226302121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226302121" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119105221", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0055103", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium-dependent self proteolysis", "id": "GO:1990091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990091", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "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": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "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": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "protein catabolic 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"negative regulation of protein sumoylation", "id": "GO:0033234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033234", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "regulation of myoblast differentiation", "id": "GO:0045661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045661", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "muscle structure development", "id": "GO:0061061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061061", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "G1 to G0 transition involved in cell differentiation", "id": "GO:0070315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070315", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle cell differentiation", "id": "GO:2001015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001015", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "programmed cell death", "id": "GO:0012501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012501", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "calcium-dependent self proteolysis", "id": "GO:1990092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990092", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": 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"plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": 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"batch.mouse.12" }, { "uniprot_canonical_ac": "Q8K1F9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K1F9", "url": "https://www.uniprot.org/uniprotkb/Q8K1F9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 566, "chemical_mass": 64826.0, "gene_names": "Lctl;E130104I05Rik;KLPH;Klph;Lctl", "protein_name": "Lactase-like protein", "disease": [ { "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 } ], "molecular_function": [ { "name": "hydrolase activity, hydrolyzing O-glycosyl compounds", "id": "GO:0004553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004553", "evidence": [ { "database": "UniProtKB", "id": "Q8K1F9", 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"168", "site_lbl": "Trp168", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029412", "evidence": [ { "id": "rs3547382642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547382642" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ser178", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029444", "evidence": [ { "id": "rs233283819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233283819" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Glu186", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029466", "evidence": [ { "id": "rs3400490933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400490933" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Val18", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64025067", "evidence": [ { "id": "rs3389000028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000028" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029606", "evidence": [ { "id": "rs240638240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240638240" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Glu210", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039018", "evidence": [ { "id": "rs3389053679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053679" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Val227", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039069", "evidence": [ { "id": "rs3399935591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399935591" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Glu27", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029466", "evidence": [ { "id": "rs3400490933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400490933" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "285", "end_pos": "285", "site_lbl": "Cys285", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64034215", "evidence": [ { "id": "rs3389050079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050079" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64034216", "evidence": [ { "id": "rs3389046005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046005" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "305", "end_pos": "305", "site_lbl": "His305", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64034277", "evidence": [ { "id": "rs242250452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242250452" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Leu320", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64038871", "evidence": [ { "id": "rs3400253398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400253398" } ] }, { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64038870", "evidence": [ { "id": "rs233827250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233827250" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Pro321", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64038874", "evidence": [ { "id": "rs3400262774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400262774" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Gly341", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64038933", "evidence": [ { "id": "rs3412949270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412949270" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Val368", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039014", "evidence": [ { "id": "rs3388999983", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999983" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Glu369", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039018", "evidence": [ { "id": "rs3389053679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389053679" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Trp382", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039056", "evidence": [ { "id": "rs3400262731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400262731" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Leu383", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039060", "evidence": [ { "id": "rs3400360708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400360708" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Val386", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039069", "evidence": [ { "id": "rs3399935591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399935591" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Ala397", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64039102", "evidence": [ { "id": "rs223317425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223317425" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Asp403", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040099", "evidence": [ { "id": "rs3389050126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050126" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Thr409", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040116", "evidence": [ { "id": "rs3389020354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020354" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Gly433", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040188", "evidence": [ { "id": "rs3547334347", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547334347" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Gly43", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64026074", "evidence": [ { "id": "rs3389046923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046923" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Asp468", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040461", "evidence": [ { "id": "rs3411152994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411152994" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Phe472", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040472", "evidence": [ { "id": "rs215338933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215338933" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Tyr474", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040479", "evidence": [ { "id": "rs235364707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235364707" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Val490", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040527", "evidence": [ { "id": "rs212911546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212911546" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040526", "evidence": [ { "id": "rs3389020374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020374" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Val4", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64025025", "evidence": [ { "id": "rs3389046008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046008" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Met557", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64045172", "evidence": [ { "id": "rs233818726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233818726" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Glu57", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64026115", "evidence": [ { "id": "rs256475382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256475382" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Trp5", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64025028", "evidence": [ { "id": "rs3389050064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050064" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Arg72", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64026161", "evidence": [ { "id": "rs3389060126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389060126" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Glu74", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64026167", "evidence": [ { "id": "rs225624008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225624008" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Leu77", "weight": 0.0, "snv": [ { 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