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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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to indole-3-methanol", "id": "GO:0071680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071680", "evidence": [ { "database": "UniProtKB", "id": "Q8C3Q9", "url": "https://www.uniprot.org/uniprotkb/Q8C3Q9" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": 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"https://www.uniprot.org/uniprotkb/P01872" }, { "database": "PubMed", "id": "23733956", "url": "https://glygen.org/publication/PubMed/23733956" } ] } ] }, { "uniprot_canonical_ac": "P01872-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Asn96", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolishes formation of 55 kDa cleavage product.", "evidence": [ { "database": "UniProtKB", "id": "P01872", "url": "https://www.uniprot.org/uniprotkb/P01872" }, { "database": "PubMed", "id": "29323348", "url": "https://glygen.org/publication/PubMed/29323348" } ] } ] } ], "record_id": "P01872-1" }, { "uniprot_canonical_ac": "Q9ES46-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 365, "chemical_mass": 41669.0, "gene_names": 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membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "lamellipodium assembly", "id": "GO:0030032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030032", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "establishment or maintenance of cell polarity regulating cell shape", "id": "GO:0071963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071963", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" }, { "name": "cell projection assembly", "id": "GO:0030031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030031", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9ES46-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9ES46", "url": "https://www.uniprot.org/uniprotkb/Q9ES46" } ] } ] } ], "record_id": "Q9ES46-1" }, { "uniprot_canonical_ac": "Q9EP73-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 290, "chemical_mass": 32780.0, "gene_names": "Cd274;A530045L16Rik;B7h1;Cd274;Pdcd1l1;Pdcd1lg1;Pdl1", "protein_name": "Programmed cell death 1 ligand 1", "disease": [ { "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:0061164", "name": "infantile onset multisystem autoimmune disease 5", "description": "An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.", "url": "https://disease-ontology.org/term/DOID:0061164", "evidence": [ { "id": "0061164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061164" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080797", "name": "nasal type extranodal NK/T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.", "url": "https://disease-ontology.org/term/DOID:0080797", "evidence": [ { "id": "0080797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080797" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:8469", "name": "influenza", "description": "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.", "url": "https://disease-ontology.org/term/DOID:8469", "evidence": [ { "id": "8469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8469" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of CD4-positive, alpha-beta T cell proliferation", "id": "GO:2000562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000562", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "Q9EP73", "url": "https://www.uniprot.org/uniprotkb/Q9EP73" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": 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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:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:11429", "name": "endometriosis of pelvic peritoneum", "description": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum.", "url": "https://disease-ontology.org/term/DOID:11429", "evidence": [ { "id": "11429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11429" } ], "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: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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "weight": 0.0 } ], "biological_process": [ { "name": 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"https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "autocrine signaling", "id": "GO:0035425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035425", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "negative regulation of dendritic cell antigen processing and presentation", "id": "GO:0002605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002605", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P31996", "url": "https://www.uniprot.org/uniprotkb/P31996" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { 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"Coiled-coil domain-containing protein 122", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BVN0-1" }, { "uniprot_canonical_ac": "P56383-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P56383", "url": "https://www.uniprot.org/uniprotkb/P56383" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 146, "chemical_mass": 15476.0, "gene_names": "Atp5mc2;1810041M08Rik;Atp5g2;Atp5mc2", "protein_name": "ATP synthase F(0) complex subunit C2, mitochondrial", "disease": [ { "disease_id": "DOID:0070445", "name": "early-onset dystonia and/or spastic paraplegia", "description": "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.", "url": "https://disease-ontology.org/term/DOID:0070445", "evidence": [ { "id": "0070445", "database": 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ESK3-1" }, { "uniprot_canonical_ac": "Q8VDP6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDP6", "url": "https://www.uniprot.org/uniprotkb/Q8VDP6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 213, "chemical_mass": 23599.0, "gene_names": "Cdipt;9530042F15Rik;Cdipt;D7Bwg0575e;Pis1;Pis", "protein_name": "CDP-diacylglycerol--inositol 3-phosphatidyltransferase", "disease": [ { "disease_id": "DOID:0070515", "name": "chromosome 16p11.2 deletion syndrome, 593-kb", "description": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).", "url": "https://disease-ontology.org/term/DOID:0070515", "evidence": [ { "id": 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"name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "P0DP26", "url": "https://www.uniprot.org/uniprotkb/P0DP26" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "P0DP26", "url": "https://www.uniprot.org/uniprotkb/P0DP26" } ], "pmid": "" }, { "name": "detection of calcium ion", "id": "GO:0005513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005513", "evidence": [ { "database": "UniProtKB", "id": "P0DP26", "url": "https://www.uniprot.org/uniprotkb/P0DP26" } ], "pmid": "" }, { "name": "regulation of ryanodine-sensitive calcium-release channel activity", "id": "GO:0060314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060314", "evidence": [ { "database": "UniProtKB", 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"name": "positive regulation of G protein-coupled receptor internalization", "id": "GO:1904022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904022", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": "https://www.uniprot.org/uniprotkb/Q9R0R4" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "Q9R0R4", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P20722", "url": "https://www.uniprot.org/uniprotkb/P20722" } ], "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": "P20722", "url": "https://www.uniprot.org/uniprotkb/P20722" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P20722", "url": "https://www.uniprot.org/uniprotkb/P20722" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P20722", "url": "https://www.uniprot.org/uniprotkb/P20722" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": 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"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": 463, "start_aa": "Thr", "end_pos": 463, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr463", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Glu140", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased beta-carotene 15,15'-monooxygenase activity. Decreased catalytic efficiency. Loss of beta-carotene 15,15'-monooxygenase activity; when associated with A-52.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "His172", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on protein abundance. Loss of beta-carotene 15,15'-monooxygenase activity. Decreased iron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "174", "end_pos": "174", "site_lbl": "His174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "237", "end_pos": "237", "site_lbl": "His237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on protein abundance. Loss of beta-carotene 15,15'-monooxygenase activity. Decreased iron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "308", "end_pos": "308", "site_lbl": "His308", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on protein abundance. Loss of beta-carotene 15,15'-monooxygenase activity. Decreased iron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "309", "end_pos": "309", "site_lbl": "His309", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Glu314", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Glu405", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Glu450", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Glu457", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Glu469", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Decreased beta-carotene 15,15'-monooxygenase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "49", "end_pos": "49", "site_lbl": "His49", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity. Decreased stability.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "514", "end_pos": "514", "site_lbl": "His514", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on protein abundance. Loss of beta-carotene 15,15'-monooxygenase activity. Loss of iron binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asp52", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Decreased beta-carotene 15,15'-monooxygenase activity. Decreased catalytic efficiency. Loss of beta-carotene 15,15'-monooxygenase activity; when associated with A-140.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] }, { "uniprot_canonical_ac": "Q9JJS6-1", "start_pos": "58", "end_pos": "58", "site_lbl": "His58", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No significant effect on beta-carotene 15,15'-monooxygenase activity. Decreased catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJS6", "url": "https://www.uniprot.org/uniprotkb/Q9JJS6" }, { "database": "PubMed", "id": "15951442", "url": "https://glygen.org/publication/PubMed/15951442" } ] } ] } ], "record_id": "Q9JJS6-1" }, { "uniprot_canonical_ac": "Q62210-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 612, "chemical_mass": 69676.0, "gene_names": "Birc2;Api1;Api2;Birc2;Birc3;C-IAP1;C330006D17Rik;HIAP1;HIAP2;IAP1;IAP2;MIAP1;MIAP2;MIHB;MIHC;RNF48;cIAP1;cIAP2;mcIAP1", "protein_name": "Baculoviral IAP repeat-containing protein 2", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3744", "name": "cervical squamous cell carcinoma", "description": "A cervix carcinoma that has_material_basis_in squamous 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carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "FBXO family protein binding", "id": "GO:0098770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098770", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q62210", "url": "https://www.uniprot.org/uniprotkb/Q62210" } ], "pmid": "" }, { "name": "XY body", "id": "GO:0001741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001741", "evidence": 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airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060001", "name": "withdrawal disorder", "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:0060731", "name": "congenital central hypoventilation syndrome", "description": "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.", "url": "https://disease-ontology.org/term/DOID:0060731", "evidence": [ { "id": "0060731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060731" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "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:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12098", "name": "trigeminal neuralgia", "description": "", "url": "https://disease-ontology.org/term/DOID:12098", "evidence": [ { "id": "12098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12098" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:13399", "name": "color blindness", "description": "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.", "url": "https://disease-ontology.org/term/DOID:13399", "evidence": [ { "id": "13399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13399" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13709", "name": "premature ejaculation", "description": "", "url": "https://disease-ontology.org/term/DOID:13709", "evidence": [ { "id": "13709", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13709" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:5295", "name": "intestinal disease", "description": "A gastrointestinal system disease that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:5295", "evidence": [ { "id": "5295", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5295" } ], "weight": 0.0 }, { "disease_id": "DOID: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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9427", "name": "hypertensive encephalopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9427", "evidence": [ { "id": "9427", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9427" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis 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"id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "gamma-aminobutyric acid signaling pathway", "id": "GO:0007214", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "collateral sprouting", "id": "GO:0048668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048668", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "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": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "neuron projection regeneration", "id": "GO:0031102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031102", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "fear response", "id": "GO:0042596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042596", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "glutamate secretion", "id": "GO:0014047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014047", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic plasticity", "id": "GO:0048170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048170", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of nuclear receptor-mediated glucocorticoid signaling pathway", "id": "GO:2000324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000324", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], "pmid": "" }, { "name": "positive regulation of collateral sprouting", "id": "GO:0048672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048672", "evidence": [ { "database": "UniProtKB", "id": "P21237", "url": "https://www.uniprot.org/uniprotkb/P21237" } ], 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"record_id": "Q3TZW7-1" }, { "uniprot_canonical_ac": "Q5RJB0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 231, "chemical_mass": 25115.0, "gene_names": "Bhlha9;A830053O21Rik;Bhlha9;Bhlhf42;Fingerin", "protein_name": "Class A basic helix-loop-helix protein 9", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "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": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": "https://www.uniprot.org/uniprotkb/Q5RJB0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q5RJB0", "url": 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guidance", "id": "GO:1902336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "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": "Q9Z2E5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E5" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", 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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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of dendritic cell apoptotic process", "id": "GO:2000669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000669", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", 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prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "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": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "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": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "dendritic cell chemotaxis", "id": "GO:0002407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002407", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of Rac protein signal transduction", "id": "GO:0035022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035022", "evidence": [ 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "myeloid dendritic cell chemotaxis", "id": "GO:0002408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002408", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of neutrophil chemotaxis", "id": "GO:0090023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090023", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "immunological synapse formation", "id": "GO:0001771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001771", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002606", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "O70460", "url": "https://www.uniprot.org/uniprotkb/O70460" } ], "pmid": "" }, { "name": 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} ], "length": 822, "chemical_mass": 90612.0, "gene_names": "Cdh3;Cadp;Cdh3;Cdhp;P-cadherin;Pcad", "protein_name": "Cadherin-3", "disease": [ { "disease_id": "DOID:0110711", "name": "congenital hypotrichosis with juvenile macular dystrophy", "description": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.", "url": "https://disease-ontology.org/term/DOID:0110711", "evidence": [ { "id": "0110711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110711" } ], "weight": 0.0 }, { "disease_id": "DOID:0111649", "name": "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome", "description": "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1.", "url": "https://disease-ontology.org/term/DOID:0111649", "evidence": [ { "id": "0111649", 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"cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "immune response", "id": 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"id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "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": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "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": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "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": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "P51676", "url": "https://www.uniprot.org/uniprotkb/P51676" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P51676-1" }, { "uniprot_canonical_ac": "P51678-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 41783.0, "gene_names": "Ccr3;CC-CKR3;CKR3;Ccr3;Cmkbr1l2;Cmkbr3", "protein_name": "Probable C-C chemokine receptor type 3", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050169", "name": "cutaneous lupus erythematosus", "description": "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.", "url": "https://disease-ontology.org/term/DOID:0050169", "evidence": [ { "id": "0050169", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050169" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "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": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P51678", "url": "https://www.uniprot.org/uniprotkb/P51678" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": 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"uniprot_canonical_ac": "Q8QZT2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 252, "chemical_mass": 28379.0, "gene_names": "Ccsap;1700054N08Rik;Ccsap", "protein_name": "Centriole, cilia and spindle-associated protein", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": 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"Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" }, { "name": "mitotic spindle astral microtubule", "id": "GO:0061673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061673", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": "https://www.uniprot.org/uniprotkb/Q8QZT2" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q8QZT2", "url": 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PVB3-1" }, { "uniprot_canonical_ac": "E9PVD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 701, "chemical_mass": 79317.0, "gene_names": "Ccdc62;Ccdc62;G1-485-3;Gm150;repro29", "protein_name": "Coiled-coil domain-containing protein 62", "disease": [ { "disease_id": "DOID:0070566", "name": "spermatogenic failure 67", "description": "A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31.", "url": "https://disease-ontology.org/term/DOID:0070566", "evidence": [ { "id": "0070566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070566" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "acrosomal 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}, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "E9PVD1", "url": "https://www.uniprot.org/uniprotkb/E9PVD1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PVD1-1" }, { "uniprot_canonical_ac": "P11609-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 336, "chemical_mass": 38554.0, "gene_names": "Cd1d1;CD1.1;Cd1.1;Cd1a;Cd1d1;Cd1d;Ly-38", "protein_name": 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Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. 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response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "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": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "antigen processing and presentation, exogenous lipid antigen via MHC class Ib", "id": "GO:0048007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048007", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive regulation of NK T cell differentiation", "id": "GO:0051138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051138", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "NK T cell differentiation", "id": "GO:0001865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001865", "evidence": [ { "database": "UniProtKB", "id": "P11609", "url": "https://www.uniprot.org/uniprotkb/P11609" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "P11609", 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"url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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: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. 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"id": "P31041", "url": "https://www.uniprot.org/uniprotkb/P31041" } ], "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": "P31041", "url": "https://www.uniprot.org/uniprotkb/P31041" } ], "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": "P31041", "url": "https://www.uniprot.org/uniprotkb/P31041" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "P31041", "url": "https://www.uniprot.org/uniprotkb/P31041" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": 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Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. 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The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. 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{ "uniprot_canonical_ac": "Q5DTK1-1", "start_pos": "818", "end_pos": "818", "site_lbl": "Leu818", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "18", "chr_pos": "59543315", "evidence": [ { "id": "rs37549540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37549540" } ] } ] } ], "record_id": "Q5DTK1-1" }, { "uniprot_canonical_ac": "Q5F201-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 620, "chemical_mass": 68240.0, "gene_names": "Cfap52;1700019F09Rik;4933417B11Rik;Cfap52;WDRPUH;Wdr16", "protein_name": "Cilia- and flagella-associated protein 52", "disease": [ { "disease_id": "DOID:0051024", 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{ "name": "establishment of left/right asymmetry", "id": "GO:0061966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061966", "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "pmid": "" }, { "name": "axonemal B tubule inner sheath", "id": "GO:0160112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160112", "evidence": [ { "database": "UniProtKB", "id": "Q5F201", "url": "https://www.uniprot.org/uniprotkb/Q5F201" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5F201-1" }, { "uniprot_canonical_ac": "Q5M6W3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5M6W3", "url": "https://www.uniprot.org/uniprotkb/Q5M6W3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 596, "chemical_mass": 69414.0, "gene_names": "Clhc1;1700034F02Rik;Clhc1", "protein_name": "Clathrin heavy chain linker domain-containing protein 1", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5M6W3-1" }, { "uniprot_canonical_ac": "Q9Z2C5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2C5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2C5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 603, "chemical_mass": 69559.0, "gene_names": "Mtm1;Mtm1;Mtm;mKIAA4176", "protein_name": "Myotubularin", "disease": [ { "disease_id": "DOID:0110191", "name": "Charcot-Marie-Tooth disease type 4B1", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).", "url": "https://disease-ontology.org/term/DOID:0110191", "evidence": [ { "id": "0110191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110191" } ], "weight": 0.0 }, { "disease_id": "DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.", "url": "https://disease-ontology.org/term/DOID:0111225", "evidence": [ { "id": 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"pmid": "" }, { "name": "positive regulation of protein linear polyubiquitination", "id": "GO:1902530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902530", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": "https://www.uniprot.org/uniprotkb/Q60989" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "Q60989", "url": 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characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.", "url": "https://disease-ontology.org/term/DOID:0080143", "evidence": [ { "id": "0080143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080143" } ], "weight": 0.0 }, { "disease_id": "DOID:0081017", "name": "congenital fibrosis of the extraocular muscles 3A", "description": "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.", "url": "https://disease-ontology.org/term/DOID:0081017", "evidence": [ { "id": "0081017", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081017" } ], "weight": 0.0 }, { "disease_id": "DOID:0090132", "name": "complex 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} ], "pmid": "" }, { "name": "positive regulation of fertilization", "id": "GO:1905516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905516", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility", "id": "GO:1902093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902093", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" }, { "name": "axonemal central pair projection", "id": "GO:1990718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990718", "evidence": [ { "database": "UniProtKB", "id": "Q8BH53", "url": "https://www.uniprot.org/uniprotkb/Q8BH53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BH53-1" }, { "uniprot_canonical_ac": "Q61418-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 747, "chemical_mass": 83733.0, "gene_names": "Clcn4;Clc4-2;Clc4;Clcn4-2;Clcn4;clC-4", "protein_name": "H(+)/Cl(-) exchange transporter 4", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure.", "url": "https://disease-ontology.org/term/DOID:0050699", "evidence": [ { "id": "0050699", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050699" } ], "weight": 0.0 }, { "disease_id": "DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22.", "url": "https://disease-ontology.org/term/DOID:0111815", "evidence": [ { "id": "0111815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111815" } ], "weight": 0.0 }, { "disease_id": "DOID:0112060", "name": "Raynaud-Claes syndrome", "description": "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0112060", "evidence": [ { "id": "0112060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112060" } ], "weight": 0.0 }, { "disease_id": "DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.", "url": "https://disease-ontology.org/term/DOID:13533", "evidence": [ { "id": "13533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13533" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "voltage-gated chloride channel activity", "id": "GO:0005247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005247", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" } ], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q61418", "url": "https://www.uniprot.org/uniprotkb/Q61418" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { 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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": 499, "start_aa": "Thr", "end_pos": 499, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr499", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "7292222", "evidence": [ { "id": "rs3397450813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397450813" } ] } ] }, { "uniprot_canonical_ac": "Q61418-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Ala342", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "7", "chr_pos": "7294736", "evidence": [ { "id": "rs3388877189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388877189" } ] } ] } ], "record_id": "Q61418-1" }, { "uniprot_canonical_ac": "Q61147-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1061, "chemical_mass": 121151.0, "gene_names": "Cp;Cp;D3Ertd555e", "protein_name": "Ceruloplasmin", "disease": [ { "disease_id": "DOID:0050711", "name": "aceruloplasminemia", "description": "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.", "url": "https://disease-ontology.org/term/DOID:0050711", "evidence": [ { "id": "0050711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050711" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:12119", "name": "hemosiderosis", "description": "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.", "url": "https://disease-ontology.org/term/DOID:12119", "evidence": [ { "id": "12119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12119" } ], "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: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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood 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"evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q61147", "url": "https://www.uniprot.org/uniprotkb/Q61147" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": 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disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.", "url": "https://disease-ontology.org/term/DOID:13250", "evidence": [ { "id": "13250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13250" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "intracellular pH elevation", "id": "GO:0051454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051454", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "secondary active sulfate transmembrane transporter activity", "id": "GO:0008271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008271", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC8", "url": "https://www.uniprot.org/uniprotkb/Q9WVC8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WVC8-1", "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", 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"record_id": "Q9CZG3-1" }, { "uniprot_canonical_ac": "Q921L5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q921L5", "url": "https://www.uniprot.org/uniprotkb/Q921L5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 731, "chemical_mass": 82040.0, "gene_names": "Cog2;1190002B08Rik;2700012E02Rik;Cog2;Ldlc", "protein_name": "Conserved oligomeric Golgi complex subunit 2", "disease": [ { "disease_id": "DOID:0070269", "name": "congenital disorder of glycosylation type IIq", "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.", "url": "https://disease-ontology.org/term/DOID:0070269", "evidence": [ { "id": "0070269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070269" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi 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"biomarkers": [], "sites": [], "record_id": "Q921L5-1" }, { "uniprot_canonical_ac": "Q61362-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 389, "chemical_mass": 43893.0, "gene_names": "Chi3l1;Brp39;Chi3l1;Chil1;Gp39", "protein_name": "Chitinase-3-like protein 1", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050685", "name": "small cell carcinoma", "description": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.", "url": "https://disease-ontology.org/term/DOID:0050685", "evidence": [ { "id": "0050685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050685" } ], "weight": 0.0 }, { "disease_id": "DOID:0080199", "name": "colorectal carcinoma", "description": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.", "url": "https://disease-ontology.org/term/DOID:0080199", "evidence": [ { "id": "0080199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080199" } ], "weight": 0.0 }, { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": 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that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "cellular_component": [ { "name": 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"GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "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": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "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": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" } ], "pmid": "" }, { "name": "response to 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No restoration of chitinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61362", "url": "https://www.uniprot.org/uniprotkb/Q61362" }, { "database": "PubMed", "id": "19041398", "url": "https://glygen.org/publication/PubMed/19041398" } ] } ] } ], "record_id": "Q61362-1" }, { "uniprot_canonical_ac": "Q8C025-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 398, "chemical_mass": 44608.0, "gene_names": "Chpt1;Chpt1;Cpt1;Dn4", "protein_name": "Cholinephosphotransferase 1", "disease": [ { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "diacylglycerol cholinephosphotransferase activity", "id": "GO:0004142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004142", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" }, { "name": "phosphotransferase activity, for other substituted phosphate groups", "id": "GO:0016780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016780", "evidence": [ { "database": "UniProtKB", "id": "Q8C025", "url": "https://www.uniprot.org/uniprotkb/Q8C025" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C025-1" }, { "uniprot_canonical_ac": "Q8CIW6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 758, "chemical_mass": 82834.0, "gene_names": "Slc26a6;B930010B04Rik;CFEX;Cfex;Pat-1;Pat1;Slc26a6", "protein_name": "Solute carrier family 26 member 6", "disease": [], "biological_process": [ { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "formate transport", "id": "GO:0015724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015724", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "mannitol transmembrane transport", "id": "GO:0015797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015797", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalate transport", "id": "GO:0019532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019532", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalic acid secretion", "id": "GO:0046724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046724", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "bicarbonate transport", "id": "GO:0015701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "regulation of intracellular pH", "id": "GO:0051453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051453", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "cellular response to fructose stimulus", "id": "GO:0071332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071332", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "transepithelial chloride transport", "id": "GO:0030321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030321", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "positive regulation of dipeptide transmembrane transport", "id": "GO:2001150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001150", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "intracellular pH elevation", "id": "GO:0051454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051454", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" } ], "molecular_function": [ { "name": "formate transmembrane transporter activity", "id": "GO:0015499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015499", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "solute:inorganic anion antiporter activity", "id": "GO:0005452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "oxalate transmembrane transporter activity", "id": "GO:0019531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019531", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate transmembrane transporter activity", "id": "GO:0015116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015116", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "chloride:bicarbonate antiporter activity", "id": "GO:0140900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140900", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "sulfate:bicarbonate antiporter activity", "id": "GO:0015383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015383", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "secondary active sulfate transmembrane transporter activity", "id": "GO:0008271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008271", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q8CIW6", "url": "https://www.uniprot.org/uniprotkb/Q8CIW6" } ], 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"https://www.uniprot.org/uniprotkb/Q8CIW6" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Ser101", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733334", "evidence": [ { "id": "rs3389020036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020036" } ] }, { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733335", "evidence": [ { "id": "rs3389078146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389078146" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Ala112", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733537", "evidence": [ { "id": "rs3389078197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389078197" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ile144", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733632", "evidence": [ { "id": "rs3389083992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389083992" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "158", "end_pos": "158", "site_lbl": "Ser158", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733907", "evidence": [ { "id": "rs231863472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231863472" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Thr164", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733995", "evidence": [ { "id": "rs3389051114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051114" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asp166", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733932", "evidence": [ { "id": "rs3389071258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071258" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Lys167", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733934", "evidence": [ { "id": "rs258608216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258608216" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Val170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733943", "evidence": [ { "id": "rs217681121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217681121" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Gly172", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733949", "evidence": [ { "id": "rs234769283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234769283" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ala177", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733965", "evidence": [ { "id": "rs243192733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243192733" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Thr187", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733995", "evidence": [ { "id": "rs3389051114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051114" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Ser189", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734001", "evidence": [ { "id": "rs3389051098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051098" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734007", "evidence": [ { "id": "rs3389020044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020044" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Leu201", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734152", "evidence": [ { "id": "rs3412824862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412824862" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "203", "end_pos": "203", "site_lbl": "His203", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734158", "evidence": [ { "id": "rs3389071138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071138" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "214", "end_pos": "214", "site_lbl": "Pro214", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734191", "evidence": [ { "id": "rs3389071290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071290" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734205", "evidence": [ { "id": "rs3389020054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020054" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Gln22", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733018", "evidence": [ { "id": "rs49775390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49775390" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ile238", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734264", "evidence": [ { "id": "rs3389079279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079279" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734273", "evidence": [ { "id": "rs238555012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238555012" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734293", "evidence": [ { "id": "rs3389075262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389075262" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "25", "end_pos": "25", "site_lbl": "Glu25", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733026", "evidence": [ { "id": "rs3389084541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389084541" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "262", "end_pos": "262", "site_lbl": "Glu262", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734421", "evidence": [ { "id": "rs263703752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263703752" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Thr263", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734425", "evidence": [ { "id": "rs3389076168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076168" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Val264", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734427", "evidence": [ { "id": "rs3389054589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054589" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Pro265", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734430", "evidence": [ { "id": "rs1135032772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135032772" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Ala274", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108734458", "evidence": [ { "id": "rs3389076209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076209" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "32", "end_pos": "32", "site_lbl": "His32", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733047", "evidence": [ { "id": "rs3389076231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389076231" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Glu340", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735052", "evidence": [ { "id": "rs1133268406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133268406" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Thr344", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735064", "evidence": [ { "id": "rs3389071264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071264" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ala358", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735106", "evidence": [ { "id": "rs3389054556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054556" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733059", "evidence": [ { "id": "rs51650764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51650764" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Leu381", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735399", "evidence": [ { "id": "rs3389067746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389067746" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Cys396", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735444", "evidence": [ { "id": "rs3389051070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389051070" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Val399", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108735453", "evidence": [ { "id": "rs3389071256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071256" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ala444", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736023", "evidence": [ { "id": "rs3389071261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071261" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Lys459", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736068", "evidence": [ { "id": "rs3389054526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389054526" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Ser466", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736089", "evidence": [ { "id": "rs3389071265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071265" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Leu46", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108733090", "evidence": [ { "id": "rs864281732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864281732" } ] } ] }, { "uniprot_canonical_ac": "Q8CIW6-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Val480", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "9", "chr_pos": "108736212", "evidence": [ { "id": "rs3389076200", "database": "dbSNP", "url": 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"name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "UV-damage excision repair", "id": "GO:0070914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070914", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle phase transition", "id": "GO:1901990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901990", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ], "pmid": "" }, { 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0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3U1J4", "url": "https://www.uniprot.org/uniprotkb/Q3U1J4" } ] } ] }, { "uniprot_canonical_ac": "Q3U1J4-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Ser645", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q3U1J4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3U1J4" }, { "database": "PubMed", "id": "25982117", "url": "https://glygen.org/publication/PubMed/25982117" } ] } ] }, { "uniprot_canonical_ac": "Q3U1J4-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Gly205", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "19", "chr_pos": "10588129", "evidence": [ { "id": "rs3389434181", "database": "dbSNP", "url": 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"weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TFC->NFC); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958291", "evidence": [ { "id": "rs579711488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579711488" } ] }, { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958290", "evidence": [ { "id": "rs3544843811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544843811" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Lys213", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KWT->NWT); glycogene of type=glycogene, 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46198948" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Met58", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NNM->NNT); glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128925765", "evidence": [ { "id": "rs240840713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240840713" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Cys109", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957216", "evidence": [ { "id": "rs48530691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48530691" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "114", "end_pos": "114", "site_lbl": "Val114", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957230", "evidence": [ { "id": "rs581408690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581408690" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Thr116", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957236", "evidence": [ { "id": "rs221582199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221582199" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "117", "end_pos": "117", "site_lbl": "Val117", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957240", "evidence": [ { "id": "rs584545547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584545547" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Val120", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957248", "evidence": [ { "id": "rs3388864740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388864740" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Pro127", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957269", "evidence": [ { "id": "rs47774699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47774699" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957269", "evidence": [ { "id": "rs47774699", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47774699" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ala128", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958168", "evidence": [ { "id": "rs45811071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45811071" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Thr129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958171", "evidence": [ { "id": "rs582540636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582540636" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Asn12", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128911414", "evidence": [ { "id": "rs245685358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245685358" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Thr131", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958177", "evidence": [ { "id": "rs3544815641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815641" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Glu132", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958179", "evidence": [ { "id": "rs3388848295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388848295" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Gln133", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958183", "evidence": [ { "id": "rs3544967971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967971" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Leu135", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958188", "evidence": [ { "id": "rs257940563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257940563" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958189", "evidence": [ { "id": "rs3544900174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900174" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ile136", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958192", "evidence": [ { "id": "rs3412942362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412942362" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958192", "evidence": [ { "id": "rs3412942362", "database": "dbSNP", "url": 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lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958196", "evidence": [ { "id": "rs3388862595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862595" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Lys138", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958199", "evidence": [ { "id": "rs222393980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222393980" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958198", "evidence": [ { "id": "rs3544920444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920444" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ala141", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958207", "evidence": [ { "id": "rs1133886101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133886101" } ] }, { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958206", "evidence": [ { "id": "rs3544815740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815740" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Lys145", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958218", "evidence": [ { "id": "rs3544847524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847524" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958219", "evidence": [ { "id": "rs3544810936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810936" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "146", "end_pos": "146", "site_lbl": "Asn146", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958223", "evidence": [ { "id": "rs1132419825", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q9D676-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Glu159", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958261", "evidence": [ { "id": "rs3544968028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968028" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958260", "evidence": [ { "id": "rs3544891999", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891999" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "161", "end_pos": "161", "site_lbl": "Thr161", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958266", "evidence": [ { "id": "rs864290980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864290980" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Ser162", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958270", "evidence": [ { "id": "rs1135209018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135209018" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958269", "evidence": [ { "id": "rs3544920307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920307" }, { "id": "rs1131810112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131810112" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Phe166", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958282", "evidence": [ { "id": "rs3544844506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844506" } ] }, { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958281", "evidence": [ { "id": "rs1134050658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134050658" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Phe170", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958294", "evidence": [ { "id": "rs1133077170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133077170" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Gln174", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958305", "evidence": [ { "id": "rs3544920462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920462" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Arg180", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958324", "evidence": [ { "id": "rs3544891420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891420" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asp182", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958329", "evidence": [ { "id": "rs3544937310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937310" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Glu184", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958335", "evidence": [ { "id": "rs3545136885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136885" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Lys185", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958338", "evidence": [ { "id": "rs583114256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583114256" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Asn188", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958827", "evidence": [ { "id": "rs3544817487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817487" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Arg192", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958838", "evidence": [ { "id": "rs578645947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578645947" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Tyr193", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958841", "evidence": [ { "id": "rs3544911185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911185" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ala195", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958847", "evidence": [ { "id": "rs3544920419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920419" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Phe197", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958852", "evidence": [ { "id": "rs3544900170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544900170" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Ser199", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958859", "evidence": [ { "id": "rs3544810479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810479" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958859", "evidence": [ { "id": "rs3544810479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810479" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Arg205", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958878", "evidence": [ { "id": "rs3388841299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388841299" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Glu206", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128958880", "evidence": [ { "id": "rs3544810265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544810265" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Gln227", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959920", "evidence": [ { "id": "rs259591664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259591664" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959920", "evidence": [ { "id": "rs259591664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259591664" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Val229", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959926", "evidence": [ { "id": "rs3544817685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817685" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "231", "end_pos": "231", "site_lbl": "Thr231", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959932", "evidence": [ { "id": "rs3544847716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847716" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Cys232", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959935", "evidence": [ { "id": "rs3544937232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937232" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Tyr234", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959941", "evidence": [ { "id": "rs3544839106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839106" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Gly237", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959950", "evidence": [ { "id": "rs3544813111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813111" } ] }, { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959949", "evidence": [ { "id": "rs49940195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49940195" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "245", "end_pos": "245", "site_lbl": "His245", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959974", "evidence": [ { "id": "rs257070537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257070537" } ] }, { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959973", "evidence": [ { "id": "rs3544817720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817720" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959975", "evidence": [ { "id": "rs3544968012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968012" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959974", "evidence": [ { "id": "rs257070537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257070537" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ile247", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959980", "evidence": [ { "id": "rs3388854815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854815" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959979", "evidence": [ { "id": "rs3544911366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911366" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Pro248", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959982", "evidence": [ { "id": "rs3544967919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967919" } ] }, { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959983", "evidence": [ { "id": "rs3544911174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911174" } ] }, { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959983", "evidence": [ { "id": "rs3544911174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911174" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "250", "end_pos": "250", "site_lbl": "Ile250", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959989", "evidence": [ { "id": "rs3544847469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847469" } ] }, { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959990", "evidence": [ { "id": "rs3544844584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544844584" } ] }, { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128959989", "evidence": [ { "id": "rs3544847469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847469" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ser254", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960002", "evidence": [ { "id": "rs3388865197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865197" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Leu256", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960007", "evidence": [ { "id": "rs3545023020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023020" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Asn257", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960009", "evidence": [ { "id": "rs3544937384", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937384" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960011", "evidence": [ { "id": "rs3544839307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544839307" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Asn258", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960013", "evidence": [ { "id": "rs48202391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48202391" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "262", "end_pos": "262", "site_lbl": "His262", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960025", "evidence": [ { "id": "rs48550148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48550148" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960025", "evidence": [ { "id": "rs48550148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48550148" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Pro264", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960031", "evidence": [ { "id": "rs3544815806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544815806" } ] }, { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960030", "evidence": [ { "id": "rs3544967975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967975" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Thr265", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960033", "evidence": [ { "id": "rs49387984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49387984" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Val267", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960040", "evidence": [ { "id": "rs235478633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235478633" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Val269", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128960045", "evidence": [ { "id": "rs3544920353", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920353" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Gly26", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128925669", "evidence": [ { "id": "rs3388865874", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q9D676-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Asn52", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128925747", "evidence": [ { "id": "rs3388862716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388862716" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Phe59", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956360", "evidence": [ { "id": "rs1135116101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135116101" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Val60", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957240", "evidence": [ { "id": "rs584545547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584545547" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Met63", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956372", "evidence": [ { "id": "rs261996045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261996045" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Lys69", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956390", "evidence": [ { "id": "rs248539148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248539148" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Gly74", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956406", "evidence": [ { "id": "rs3545023133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023133" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "75", "end_pos": "75", "site_lbl": "Glu75", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47270775" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956411", "evidence": [ { "id": "rs47270775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47270775" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956413", "evidence": [ { "id": "rs578654380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578654380" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Ser77", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956414", "evidence": [ { "id": "rs581982614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581982614" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956414", "evidence": [ { "id": "rs581982614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs581982614" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Val83", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956432", "evidence": [ { "id": "rs3544920132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544920132" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "84", "end_pos": "84", "site_lbl": "His84", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956437", "evidence": [ { "id": "rs260253389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260253389" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ser85", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128956439", "evidence": [ { "id": "rs230535585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230535585" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asn92", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957166", "evidence": [ { "id": "rs52003107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs52003107" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957165", "evidence": [ { "id": "rs3544937473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937473" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957169", "evidence": [ { "id": "rs3388865219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865219" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ala96", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957176", "evidence": [ { "id": "rs220522437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220522437" } ] } ] }, { "uniprot_canonical_ac": "Q9D676-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Ile97", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957179", "evidence": [ { "id": "rs251342082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251342082" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128957179", "evidence": [ { "id": "rs251342082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251342082" } ] } ] } ], "record_id": "Q9D676-1" }, { "uniprot_canonical_ac": "P54099-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P54099", "url": "https://www.uniprot.org/uniprotkb/P54099" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1218, "chemical_mass": 136758.0, "gene_names": "Polg;Polg1", "protein_name": "DNA polymerase subunit gamma-1", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050753", "name": "cerebellar ataxia", "description": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum.", "url": "https://disease-ontology.org/term/DOID:0050753", "evidence": [ { "id": "0050753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050753" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", 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ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26.", "url": "https://disease-ontology.org/term/DOID:0080123", "evidence": [ { "id": "0080123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080123" } ], "weight": 0.0 }, { "disease_id": "DOID:0111276", "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "description": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111276", "evidence": [ { "id": "0111276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111276" } ], "weight": 0.0 }, { "disease_id": "DOID:0111521", "name": "autosomal dominant progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111521", "evidence": [ { "id": "0111521", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111521" } ], "weight": 0.0 }, { "disease_id": "DOID:0111522", "name": "autosomal recessive progressive external ophthalmoplegia 1", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.", "url": "https://disease-ontology.org/term/DOID:0111522", "evidence": [ { "id": "0111522", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111522" } ], "weight": 0.0 }, { 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passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128872374", "evidence": [ { "id": "rs3544836443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836443" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "173", "end_pos": "173", "site_lbl": "Asn173", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873377", "evidence": [ { "id": "rs578345814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578345814" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Pro174", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873380", "evidence": [ { "id": "rs3388865938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865938" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Leu176", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Val178", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873392", "evidence": [ { "id": "rs579180592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579180592" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Gly179", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873395", "evidence": [ { "id": "rs582411275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582411275" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Arg180", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873398", "evidence": [ { "id": "rs3544809580", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809580" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Tyr183", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873407", "evidence": [ { "id": "rs3544911219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911219" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Ser186", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873415", "evidence": [ { "id": "rs3544841660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544841660" } ] }, { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873416", "evidence": [ { "id": "rs579901829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579901829" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Asp187", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873418", "evidence": [ { "id": "rs582194230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582194230" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Arg188", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873421", "evidence": [ { "id": "rs3544809598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809598" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ala18", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869810", "evidence": [ { "id": "rs229756475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229756475" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ser194", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873440", "evidence": [ { "id": "rs3544847562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847562" } ] }, { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873441", "evidence": [ { "id": "rs3544809152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809152" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ile196", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873445", "evidence": [ { "id": "rs3545137042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545137042" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Asn197", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873448", "evidence": [ { "id": "rs3544809593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809593" } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873449", "evidence": [ { "id": "rs3544895942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544895942" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873450", "evidence": [ { "id": "rs3544968044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544968044" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Leu205", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873473", "evidence": [ { "id": "rs3388854775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854775" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873473", "evidence": [ { "id": "rs3388854775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388854775" } ] }, { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873386", "evidence": [ { "id": "rs583000618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583000618" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "206", "end_pos": "206", "site_lbl": "Asn206", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873475", "evidence": [ { "id": "rs3544817654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817654" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873477", "evidence": [ { "id": "rs3545136865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136865" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Asn207", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873479", "evidence": [ { "id": "rs3544847669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847669" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Leu210", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873487", "evidence": [ { "id": "rs3388857281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388857281" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "His211", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873490", "evidence": [ { "id": "rs3388866299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388866299" } ] }, { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873491", "evidence": [ { "id": "rs3544896182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896182" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Gln213", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873496", "evidence": [ { "id": "rs3544846974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544846974" } ] }, { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873497", "evidence": [ { "id": "rs587125190", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587125190" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Pro216", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873505", "evidence": [ { "id": "rs3544896078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896078" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Val217", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873509", "evidence": [ { "id": "rs3544911105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911105" } ] }, { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128873508", "evidence": [ { "id": "rs5527807427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527807427" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Val21", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869819", "evidence": [ { "id": "rs3544813356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813356" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Glu26", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869835", "evidence": [ { "id": "rs3545023115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023115" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Pro2", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864602", "evidence": [ { "id": "rs579340934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579340934" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Leu31", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869850", "evidence": [ { "id": "rs248656356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248656356" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Gly34", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869858", "evidence": [ { "id": "rs238653518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238653518" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869859", "evidence": [ { "id": "rs1133523365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133523365" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Val38", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870587", "evidence": [ { "id": "rs587175531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587175531" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Gln39", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870590", "evidence": [ { "id": "rs1134174359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134174359" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Cys42", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870599", "evidence": [ { "id": "rs3544967872", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544967872" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "43", "end_pos": "43", "site_lbl": "Phe43", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870602", "evidence": [ { "id": "rs3544937417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937417" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Arg44", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870606", "evidence": [ { "id": "rs3544809461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809461" } ] }, { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870606", "evidence": [ { "id": "rs3544809461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809461" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ile45", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870609", "evidence": [ { "id": "rs3544937529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937529" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ile46", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870613", "evidence": [ { "id": "rs3544809298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809298" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Ser47", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870615", "evidence": [ { "id": "rs3544896110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896110" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Thr48", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870617", "evidence": [ { "id": "rs3544911166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911166" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Val49", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870621", "evidence": [ { "id": "rs3545023015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545023015" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Val52", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870630", "evidence": [ { "id": "rs3544836500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836500" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Leu54", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870635", "evidence": [ { "id": "rs3544911343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911343" } ] }, { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870636", "evidence": [ { "id": "rs3544847444", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544847444" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870635", "evidence": [ { "id": "rs3544911343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911343" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Tyr55", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870638", "evidence": [ { "id": "rs3544809451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809451" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Cys56", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870642", "evidence": [ { "id": "rs3544809185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809185" } ] }, { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870641", "evidence": [ { "id": "rs3544817576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817576" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870642", "evidence": [ { "id": "rs3544809185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544809185" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Gly59", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869858", "evidence": [ { "id": "rs238653518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238653518" } ] }, { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128869859", "evidence": [ { "id": "rs1133523365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133523365" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Ile61", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870656", "evidence": [ { "id": "rs1134486197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134486197" } ] }, { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870656", "evidence": [ { "id": "rs1134486197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134486197" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Met62", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870661", "evidence": [ { "id": "rs3544836762", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544836762" } ] }, { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870660", "evidence": [ { "id": "rs3544841540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544841540" } ] }, { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870659", "evidence": [ { "id": "rs3545136966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545136966" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Thr65", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870669", "evidence": [ { "id": "rs1132063706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063706" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870669", "evidence": [ { "id": "rs1132063706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132063706" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Glu6", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864613", "evidence": [ { "id": "rs1133613558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133613558" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Ser72", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870690", "evidence": [ { "id": "rs3544813168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813168" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Ala74", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870696", "evidence": [ { "id": "rs3544891122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544891122" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Ser76", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870702", "evidence": [ { "id": "rs3397405873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397405873" } ] }, { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870615", "evidence": [ { "id": "rs3544896110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544896110" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Thr77", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128870617", "evidence": [ { "id": "rs3544911166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911166" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Lys78", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871635", "evidence": [ { "id": "rs3545022940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022940" } ] }, { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871635", "evidence": [ { "id": "rs3545022940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022940" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Ile84", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871652", "evidence": [ { "id": "rs3544895979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544895979" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ile85", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871655", "evidence": [ { "id": "rs3545022912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3545022912" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Lys87", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871663", "evidence": [ { "id": "rs3544817546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544817546" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Ser93", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871679", "evidence": [ { "id": "rs3544911304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544911304" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asn95", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871687", "evidence": [ { "id": "rs585526258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs585526258" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Thr97", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871692", "evidence": [ { "id": "rs3544937204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544937204" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128871691", "evidence": [ { "id": "rs3544813117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544813117" } ] } ] }, { "uniprot_canonical_ac": "Q9WVF9-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Glu9", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "128864624", "evidence": [ { "id": "rs5527864764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527864764" } ] } ] } ], "record_id": "Q9WVF9-1" }, { "uniprot_canonical_ac": "O55229-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55229", "url": "https://www.uniprot.org/uniprotkb/O55229" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 394, "chemical_mass": 45126.0, "gene_names": "Chkb;Chetk;Chkb;Chkl;Ck/Ek-beta;Ck/Ek;Ckb;Ckekb;Ck;Ek", "protein_name": "Choline/ethanolamine kinase", "disease": [ { "disease_id": "DOID:0110632", "name": "megaconial type congenital muscular dystrophy", "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.", "url": "https://disease-ontology.org/term/DOID:0110632", "evidence": [ { "id": "0110632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110632" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in 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Associated with a high risk of carcinoma and has_symptom lesions on the body.", "url": "https://disease-ontology.org/term/DOID:13777", "evidence": [ { "id": "13777", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13777" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "calcium-dependent protein kinase inhibitor activity", "id": "GO:0008427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008427", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" 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"https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090050", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of substrate 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"https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "negative regulation of megakaryocyte differentiation", "id": "GO:0045653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045653", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "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": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0F4", "url": "https://www.uniprot.org/uniprotkb/Q9Z0F4" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": 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] }, { "uniprot_canonical_ac": "Q9QZ15-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Ser222", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "6", "chr_pos": "123119414", "evidence": [ { "id": "rs232483446", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232483446" } ] }, { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "6", "chr_pos": "123119413", "evidence": [ { "id": "rs262910429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262910429" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ15-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Ser224", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation 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"database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" } ], "molecular_function": [ { "name": "membrane insertase activity", "id": "GO:0032977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032977", "evidence": [ { "database": "UniProtKB", "id": "Q8VC74", "url": "https://www.uniprot.org/uniprotkb/Q8VC74" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VC74-1" }, { "uniprot_canonical_ac": "Q91V76-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 315, "chemical_mass": 34996.0, "gene_names": "4931406C07Rik;Bkgd", "protein_name": "Beta-keto L-gulonate decarboxylase", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0047842", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "Q91V76", "url": "https://www.uniprot.org/uniprotkb/Q91V76" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q91V76-1" }, { "uniprot_canonical_ac": "Q9WVD4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 816, "chemical_mass": 90706.0, "gene_names": "Clcn5;5430408K11Rik;ClC-5;Clc4-1;Clc5;Clcn4-1;Clcn5;D930009B12Rik;DXImx42e;Sfc13", "protein_name": "H(+)/Cl(-) exchange transporter 5", "disease": [ { "disease_id": "DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney 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Extra-renal involvement is absent.", "url": "https://disease-ontology.org/term/DOID:0081453", "evidence": [ { "id": "0081453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081453" } ], "weight": 0.0 }, { "disease_id": "DOID:0111798", "name": "X-linked nephrolithiasis type I", "description": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0111798", "evidence": [ { "id": "0111798", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111798" } ], "weight": 0.0 }, { "disease_id": "DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevated levels of low molecular weight 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0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WVD4", "url": "https://www.uniprot.org/uniprotkb/Q9WVD4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9DAE7", "url": "https://www.uniprot.org/uniprotkb/Q9DAE7" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9DAE7", "url": "https://www.uniprot.org/uniprotkb/Q9DAE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DAE7-1" }, { "uniprot_canonical_ac": "Q8BTE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BTE5", "url": "https://www.uniprot.org/uniprotkb/Q8BTE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 80, "chemical_mass": 9286.0, "gene_names": "Cebpzos;1110001A16Rik;Cebpzos", "protein_name": "Protein CEBPZOS", "disease": [], "cellular_component": [ { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8BTE5", "url": "https://www.uniprot.org/uniprotkb/Q8BTE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BTE5-1" }, { "uniprot_canonical_ac": "Q9CWX2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWX2", "url": "https://www.uniprot.org/uniprotkb/Q9CWX2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 328, "chemical_mass": 37810.0, "gene_names": "Ndufaf1;Cia30", "protein_name": "Complex I intermediate-associated protein 30, mitochondrial", "disease": [ { "disease_id": "DOID:0112089", "name": "nuclear type mitochondrial complex I deficiency 11", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1.", 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"chemical_mass": 27420.0, "gene_names": "Clec7a;Bgr;Clecsf12;Dectin1", "protein_name": "C-type lectin domain family 7 member A", "disease": [ { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001872", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "opsonin binding", "id": "GO:0001846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001846", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "(1->3)-beta-D-glucan immune receptor activity", "id": "GO:0001874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001874", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" } ], "biological_process": [ { "name": "leukocyte activation involved in immune 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"innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "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": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "regulation of canonical NF-kappaB signal transduction", "id": "GO:0043122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043122", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in immune response", "id": "GO:0002720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002720", "evidence": [ { "database": "UniProtKB", "id": "Q6QLQ4", "url": "https://www.uniprot.org/uniprotkb/Q6QLQ4" } ], "pmid": "" }, { "name": "stimulatory C-type lectin receptor signaling pathway", "id": "GO:0002223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002223", "evidence": [ { "database": "UniProtKB", "id": 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glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83596476", "evidence": [ { "id": "rs3388926958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926958" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1151", "end_pos": "1151", "site_lbl": "Phe1151", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83593250", "evidence": [ { "id": "rs3388920616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920616" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1179", "end_pos": "1179", "site_lbl": "Ala1179", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83593167", "evidence": [ { "id": "rs3398026739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398026739" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1196", "end_pos": "1196", "site_lbl": "Pro1196", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83593116", "evidence": [ { "id": "rs3388911272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911272" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1203", "end_pos": "1203", "site_lbl": "Gln1203", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83593093", "evidence": [ { "id": "rs3388923192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923192" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1229", "end_pos": "1229", "site_lbl": "Phe1229", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83592839", "evidence": [ { "id": "rs227480187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227480187" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1251", "end_pos": "1251", "site_lbl": "Ile1251", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83591318", "evidence": [ { "id": "rs1134164525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134164525" } ] }, { "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83591319", "evidence": [ { "id": "rs3388896279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896279" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1253", "end_pos": "1253", "site_lbl": "Gly1253", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83591314", "evidence": [ { "id": "rs3388918257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918257" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1257", "end_pos": "1257", "site_lbl": "His1257", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83591302", "evidence": [ { "id": "rs3388920636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920636" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Arg127", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83647699", "evidence": [ { "id": "rs3388915786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915786" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Lys1309", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83586627", "evidence": [ { "id": "rs3388896315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896315" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Pro136", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646641", "evidence": [ { "id": "rs3388920683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920683" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Gly144", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646616", "evidence": [ { "id": "rs3388924601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924601" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Leu168", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646544", "evidence": [ { "id": "rs3388911304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911304" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Thr17", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652564", "evidence": [ { "id": "rs37126846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37126846" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "183", "end_pos": "183", "site_lbl": "Ser183", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646498", "evidence": [ { "id": "rs3388915807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915807" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "184", "end_pos": "184", "site_lbl": "Trp184", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646496", "evidence": [ { "id": "rs3388911229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911229" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Val191", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646476", "evidence": [ { "id": "rs3388924641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924641" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Val193", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646469", "evidence": [ { "id": "rs1134037683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134037683" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Leu198", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83646455", "evidence": [ { "id": "rs3388881873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881873" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Asn24", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652543", "evidence": [ { "id": "rs254468323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254468323" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "262", "end_pos": "262", "site_lbl": "His262", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83641239", "evidence": [ { "id": "rs3388903142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903142" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ser270", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83638400", "evidence": [ { "id": "rs3388927768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388927768" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Val274", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83638389", "evidence": [ { "id": "rs3388924083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924083" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ala28", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652532", "evidence": [ { "id": "rs242117301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242117301" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Ser29", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83652528", "evidence": [ { "id": "rs3388918210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388918210" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Ala33", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648460", "evidence": [ { "id": "rs37016769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37016769" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Gly391", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83632389", "evidence": [ { "id": "rs3398026729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398026729" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Arg408", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631589", "evidence": [ { "id": "rs3388923144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923144" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Thr412", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631576", "evidence": [ { "id": "rs3388915799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388915799" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "414", "end_pos": "414", "site_lbl": "Ser414", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631570", "evidence": [ { "id": "rs3388924099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924099" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "418", "end_pos": "418", "site_lbl": "Asn418", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631559", "evidence": [ { "id": "rs3388881853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388881853" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Ala442", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631487", "evidence": [ { "id": "rs3388924167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924167" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Ser443", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631483", "evidence": [ { "id": "rs3388920648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920648" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Thr444", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631480", "evidence": [ { "id": "rs3388903174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903174" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Arg455", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83631447", "evidence": [ { "id": "rs223692469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223692469" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "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, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83624322", "evidence": [ { "id": "rs3388924385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924385" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Pro510", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83624306", "evidence": [ { "id": "rs3388923186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923186" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Gly525", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83624261", "evidence": [ { "id": "rs3388926916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926916" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Arg52", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648404", "evidence": [ { "id": "rs3388911289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388911289" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Ala537", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622568", "evidence": [ { "id": "rs246085261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246085261" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Asp53", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83648401", "evidence": [ { "id": "rs3388923161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388923161" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Gly563", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622490", "evidence": [ { "id": "rs3398345487", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398345487" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "571", "end_pos": "571", "site_lbl": "Tyr571", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622467", "evidence": [ { "id": "rs3398151824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398151824" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "572", "end_pos": "572", "site_lbl": "Asp572", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622463", "evidence": [ { "id": "rs3398345456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398345456" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83622464", "evidence": [ { "id": "rs3397406186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3397406186" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "573", "end_pos": "573", 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"uniprot_canonical_ac": "Q8BI06-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ser765", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83606922", "evidence": [ { "id": "rs3388924631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924631" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "826", "end_pos": "826", "site_lbl": "Asp826", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83604563", "evidence": [ { "id": "rs3388926956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388926956" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Lys830", 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passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83604533", "evidence": [ { "id": "rs3388924439", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924439" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "842", "end_pos": "842", "site_lbl": "Ser842", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83604517", "evidence": [ { "id": "rs3388896272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388896272" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Val845", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83604508", "evidence": [ { "id": "rs3388924623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924623" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Ile85", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83647825", "evidence": [ { "id": "rs3398345451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398345451" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "898", "end_pos": "898", "site_lbl": "Leu898", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83602095", "evidence": [ { "id": "rs3388924459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924459" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Asn920", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83602029", "evidence": [ { "id": "rs3388920618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920618" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "940", "end_pos": "940", "site_lbl": "Glu940", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83600802", "evidence": [ { "id": "rs3388921865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388921865" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "983", "end_pos": "983", "site_lbl": "His983", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83600672", "evidence": [ { "id": "rs3388903159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388903159" } ] } ] }, { "uniprot_canonical_ac": "Q8BI06-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Asp991", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "7", "chr_pos": "83600649", "evidence": [ { "id": "rs3388924630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388924630" } ] } ] } ], "record_id": "Q8BI06-1" }, { "uniprot_canonical_ac": "Q8C5T8-1", "species": [ { "name": "Mus 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"reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 25791.0, "gene_names": "Chic1;Brx;Chic1;Gm10454", "protein_name": "Cysteine-rich hydrophobic domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW7", "url": "https://www.uniprot.org/uniprotkb/Q8CBW7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8CBW7", "url": "https://www.uniprot.org/uniprotkb/Q8CBW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CBW7-1" }, { "uniprot_canonical_ac": "Q8CDN8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CDN8", "url": "https://www.uniprot.org/uniprotkb/Q8CDN8" } ], 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lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ10", "url": "https://www.uniprot.org/uniprotkb/Q9CQ10" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ10", "url": "https://www.uniprot.org/uniprotkb/Q9CQ10" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ10", "url": "https://www.uniprot.org/uniprotkb/Q9CQ10" } ], "pmid": "" }, { "name": "late endosome to vacuole transport", "id": "GO:0045324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045324", "evidence": [ { "database": "UniProtKB", "id": "Q9CQ10", "url": "https://www.uniprot.org/uniprotkb/Q9CQ10" } ], "pmid": "" }, { "name": "membrane 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] }, { "uniprot_canonical_ac": "P70194-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Val45", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "6", "chr_pos": "83632099", "evidence": [ { "id": "rs38371284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38371284" } ] } ] }, { "uniprot_canonical_ac": "P70194-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Gly466", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/type 2 receptor.", "chr_id": "6", "chr_pos": "83622969", "evidence": [ { "id": "rs3388838265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388838265" } ] } ] }, { "uniprot_canonical_ac": "P70194-1", "start_pos": "468", "end_pos": "468", 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"" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0110019", "name": "age related macular degeneration 7", "description": "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0110019", "evidence": [ { "id": "0110019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110019" } ], "weight": 0.0 }, { "disease_id": "DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110021", "evidence": [ { "id": "0110021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110021" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11555", "name": "Fuchs' endothelial dystrophy", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "url": "https://disease-ontology.org/term/DOID:11555", "evidence": [ { "id": "11555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11555" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14095", "name": "boutonneuse fever", "description": "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.", "url": "https://disease-ontology.org/term/DOID:14095", "evidence": [ { "id": "14095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14095" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5162", "name": "arteriolosclerosis", "description": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.", "url": "https://disease-ontology.org/term/DOID:5162", "evidence": [ { "id": "5162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5162" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.", "url": "https://disease-ontology.org/term/DOID:8354", "evidence": [ { "id": "8354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8354" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 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"uniprot_canonical_ac": "Q6ZQ11-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Cys241", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "65775395", "evidence": [ { "id": "rs3388907864", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388907864" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQ11-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Arg259", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "7", "chr_pos": "65775448", "evidence": [ { "id": "rs3388899665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899665" } ] } ] }, { "uniprot_canonical_ac": "Q6ZQ11-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Val264", 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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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "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": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of blood vessel remodeling", "id": "GO:0060313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060313", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of collagen catabolic process", "id": "GO:0010711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010711", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix disassembly", "id": "GO:0010716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010716", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", 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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:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "regulation of leukocyte migration", "id": "GO:0002685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002685", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "negative regulation of execution phase of apoptosis", "id": "GO:1900118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900118", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-X-C chemokine receptor activity", "id": "GO:0016494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016494", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-X-C chemokine binding", "id": "GO:0019958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019958", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "chemokine binding", "id": "GO:0019956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019956", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88410-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Asn22", "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": 22, "start_aa": "Asn", "end_pos": 22, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn22", "evidence": [ { "id": "O88410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88410#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88410-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asn32", "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": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "evidence": [ { "id": "O88410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88410#ptm_processing" } ] } ] } ], "record_id": "O88410-1" }, { "uniprot_canonical_ac": "P00015-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 105, "chemical_mass": 11714.0, "gene_names": "Cyct;Cyct;T-Cc", "protein_name": "Cytochrome c, testis-specific", "disease": [ { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", 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c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "hydrogen peroxide metabolic process", "id": "GO:0042743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042743", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "mitochondrial electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00015-1" }, { "uniprot_canonical_ac": "P00416-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00416", "url": "https://www.uniprot.org/uniprotkb/P00416" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 261, "chemical_mass": 29923.0, "gene_names": "mt-Co3;COIII;Mtco3", "protein_name": "Cytochrome c oxidase subunit 3", "disease": [ { "disease_id": "DOID:3687", "name": "MELAS syndrome", "description": "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.", "url": "https://disease-ontology.org/term/DOID:3687", "evidence": [ { "id": "3687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3687" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": 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"id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "P00416", "url": "https://www.uniprot.org/uniprotkb/P00416" } ], "pmid": "" }, { "name": "respiratory chain complex IV assembly", "id": "GO:0008535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008535", "evidence": [ { "database": "UniProtKB", "id": "P00416", "url": "https://www.uniprot.org/uniprotkb/P00416" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytochrome-c oxidase activity", "id": "GO:0004129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004129", "evidence": [ { "database": "UniProtKB", "id": "P00416", "url": "https://www.uniprot.org/uniprotkb/P00416" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00416-1" }, { "uniprot_canonical_ac": "P04345-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 174, "chemical_mass": 21149.0, "gene_names": "Cryga;Cryg-4;Cryga;DGcry-4;Secc", "protein_name": "Gamma-crystallin A", "disease": [ { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 } ], "biological_process": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "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": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P04345-1" }, { "uniprot_canonical_ac": "P09920-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 208, "chemical_mass": 22421.0, "gene_names": "Csf3;Csf3;Csfg;G-CSF;MGI-IG", "protein_name": "Granulocyte colony-stimulating factor", "disease": [ { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "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": 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results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.", "url": "https://disease-ontology.org/term/DOID:11450", "evidence": [ { "id": "11450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11450" } ], "weight": 0.0 }, { "disease_id": "DOID:12010", "name": "anterior ischemic optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12010", "evidence": [ { "id": "12010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12010" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"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: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:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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"https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "granulocyte differentiation", "id": "GO:0030851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030851", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "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": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "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": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "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": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor signaling pathway", "id": "GO:0038158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038158", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "positive regulation of myeloid cell differentiation", "id": "GO:0045639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045639", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "regulation of actin filament organization", "id": "GO:0110053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110053", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "endocytic vesicle lumen", "id": "GO:0071682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071682", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor receptor binding", "id": "GO:0005130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005130", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P09920-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Thr165", "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": 165, "start_aa": "Thr", "end_pos": 165, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr165", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P09920-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Thr169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 169, "start_aa": "Thr", "end_pos": 169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "P09920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P09920#ptm_processing" }, { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "P09920-1" }, { "uniprot_canonical_ac": "P12790-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 491, "chemical_mass": 55741.0, "gene_names": "Cyp2b9;Cyp2b-9;Cyp2b9;Cyp2b;Rip", "protein_name": "Cytochrome P450 2B9", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ketone metabolic process", "id": "GO:0042180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042180", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "response to stilbenoid", "id": "GO:0035634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035634", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "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": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "estrogen 2-hydroxylase activity", "id": "GO:0101021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101021", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "testosterone 16-alpha-hydroxylase activity", "id": "GO:0008390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008390", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "testosterone 16-beta-hydroxylase activity", "id": "GO:0062184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062184", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "anandamide 8,9 epoxidase activity", "id": "GO:0062187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062187", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "anandamide 11,12 epoxidase activity", "id": "GO:0062188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062188", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "anandamide 14,15 epoxidase activity", "id": "GO:0062189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062189", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12790-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ] } ] } ], "record_id": "P12790-1" }, { "uniprot_canonical_ac": "P18340-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 126, "chemical_mass": 14444.0, "gene_names": "Cxcl9;CMK;Cxcl9;Mig;MuMIG;Scyb9;crg-10", "protein_name": "C-X-C motif chemokine 9", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "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": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/P18340" } ], "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": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "positive regulation of myoblast fusion", "id": "GO:1901741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901741", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18340-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "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": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "P18340", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18340#ptm_processing" } ] } ] } ], "record_id": "P18340-1" }, { "uniprot_canonical_ac": "P18406-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": 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"https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "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": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "atrial septum morphogenesis", "id": "GO:0060413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060413", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "intussusceptive angiogenesis", "id": "GO:0002041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002041", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "apoptotic process involved in heart morphogenesis", "id": "GO:0003278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003278", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "chondroblast differentiation", "id": "GO:0060591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060591", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of ceramide biosynthetic process", "id": "GO:2000304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000304", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 56988.0, "gene_names": "Cyp2d11;Cyp2d-11;Cyp2d11;Cyp2d;P450-2D", "protein_name": "Cytochrome P450 2D11", "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": 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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.", 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} ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "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": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P24457-1" }, { "uniprot_canonical_ac": "P24622-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P24622", "url": "https://www.uniprot.org/uniprotkb/P24622" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 22489.0, "gene_names": "Cryaa;Acry-1;Crya-1;Crya1;Cryaa;DAcry-1;lop18", "protein_name": "Alpha-crystallin A chain", "disease": [ { "disease_id": "DOID:0080093", "name": "adult-onset myofibrillar myopathy 2A", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080093", 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Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "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": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "interleukin-8 binding", "id": "GO:0019959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019959", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": 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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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "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": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "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": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JHH5-1" }, { "uniprot_canonical_ac": "Q9JM84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 148, "chemical_mass": 16451.0, "gene_names": "Cst5;Cst10;Cst5;DD72", "protein_name": "Cystatin-D", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "biological_process": [ { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte growth", "id": "GO:0003430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003430", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JM84-1" }, { "uniprot_canonical_ac": "Q9JMA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 57987.0, "gene_names": "Cyp3a41a;Cyp3a41b;Cyp3a41b;Cyp3a41", "protein_name": "Cytochrome P450 3A41", "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:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid hydroxylation", "id": "GO:0002933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002933", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "oxidative demethylation", "id": "GO:0070989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070989", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "alkaloid catabolic process", "id": "GO:0009822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009822", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "molecular_function": [ { "name": "retinoic acid 4-hydroxylase activity", "id": "GO:0008401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008401", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "estrogen 16-alpha-hydroxylase activity", "id": "GO:0101020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101020", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "demethylase activity", "id": "GO:0032451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032451", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "testosterone 6-beta-hydroxylase activity", "id": "GO:0050649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050649", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9JMA7-1" }, { "uniprot_canonical_ac": "Q9WUQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 99, "chemical_mass": 11716.0, "gene_names": "Cxcl14;1110031L23Rik;1200006I23Rik;BMAC;BRAK;Bmac;Cxcl14;KS1;Kec;Ks1;MIP-2g;MIP2gamma;Mip2g;NJAC;Scyb14;bolekine", "protein_name": "C-X-C motif chemokine 14", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" } ], "biological_process": [ { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "positive regulation of natural 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gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": 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"id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "single strand break repair", "id": "GO:0000012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000012", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q8BTF7", "url": "https://www.uniprot.org/uniprotkb/Q8BTF7" } ], "pmid": "" }, { "name": "isotype switching", "id": 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"evidence": [ { "id": "rs3389505599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389505599" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Val404", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60836849", "evidence": [ { "id": "rs3389470766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470766" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ala410", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60836832", "evidence": [ { "id": "rs3389505637", "database": "dbSNP", "url": 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No effect on sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3UHN9", "url": "https://www.uniprot.org/uniprotkb/Q3UHN9" }, { "database": "PubMed", "id": "12590599", "url": "https://glygen.org/publication/PubMed/12590599" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Leu4", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60846298", "evidence": [ { "id": "rs262807131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262807131" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Asp506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60833493", "evidence": [ { "id": "rs3389470735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470735" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60832758", "evidence": [ { "id": "rs107806750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107806750" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Leu540", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60832710", "evidence": [ { "id": 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} ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Val73", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60846091", "evidence": [ { "id": "rs3389504497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504497" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Lys779", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60824339", "evidence": [ { "id": "rs3389470698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470698" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Pro785", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60824323", "evidence": [ { "id": "rs3389516048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516048" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Met789", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60824309", "evidence": [ { "id": "rs3389453868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453868" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Val798", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60824284", "evidence": [ { "id": "rs3389414259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414259" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Phe816", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60823119", "evidence": [ { "id": "rs3389504166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504166" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Asp850", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline 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Loss of sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3UHN9", "url": "https://www.uniprot.org/uniprotkb/Q3UHN9" }, { "database": "PubMed", "id": "12590599", "url": "https://glygen.org/publication/PubMed/12590599" } ] } ] } ], "record_id": "Q3UHN9-1" }, { "uniprot_canonical_ac": "Q9Z2W0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z2W0", "url": "https://www.uniprot.org/uniprotkb/Q9Z2W0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 473, "chemical_mass": 52207.0, "gene_names": "Dnpep;Dnpep", "protein_name": "Aspartyl aminopeptidase", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2W0", "url": "https://www.uniprot.org/uniprotkb/Q9Z2W0" } ], "pmid": "" }, { "name": "cytoplasm", "id": 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] } ] }, { "uniprot_canonical_ac": "Q9ERA6-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Gly166", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on nuclear speckled pattern localization; when associated with A-168 and R-170.", "evidence": [ { "database": "UniProtKB", "id": "Q9ERA6", "url": "https://www.uniprot.org/uniprotkb/Q9ERA6" }, { "database": "PubMed", "id": "19165350", "url": "https://glygen.org/publication/PubMed/19165350" } ] } ] }, { "uniprot_canonical_ac": "Q9ERA6-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Gly168", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "No effect on nuclear speckled pattern localization; when associated with A-166 and R-170.", "evidence": [ { "database": "UniProtKB", "id": "Q9ERA6", "url": "https://www.uniprot.org/uniprotkb/Q9ERA6" }, { "database": "PubMed", "id": "19165350", "url": "https://glygen.org/publication/PubMed/19165350" } ] } ] 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], "length": 2090, "chemical_mass": 237911.0, "gene_names": "Dysf;2310004N10Rik;D6Pas3;Dysf;Fer1l1", "protein_name": "Dysferlin", "disease": [ { "disease_id": "DOID:0070199", "name": "Miyoshi muscular dystrophy 1", "description": "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0070199", "evidence": [ { "id": "0070199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070199" } ], "weight": 0.0 }, { "disease_id": "DOID:0110276", "name": "autosomal recessive limb-girdle muscular dystrophy type 2B", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.", "url": "https://disease-ontology.org/term/DOID:0110276", "evidence": [ { "id": "0110276", "database": "AGR", "url": 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"Q9ESD7", "url": "https://www.uniprot.org/uniprotkb/Q9ESD7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9ESD7", "url": "https://www.uniprot.org/uniprotkb/Q9ESD7" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q9ESD7", "url": "https://www.uniprot.org/uniprotkb/Q9ESD7" } ], "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": "Q9ESD7", "url": "https://www.uniprot.org/uniprotkb/Q9ESD7" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": 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"uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Gly211", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "VP*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30732352_30732353insTTC", "evidence": [ { "id": "rs3404897941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404897941" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ala212", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30732355", "evidence": [ { "id": "rs3404982918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404982918" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Gln215", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30732365", "evidence": [ { "id": "rs3404925641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404925641" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Phe246", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30732913", "evidence": [ { "id": "rs3404170961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404170961" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Lys264", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30732967", "evidence": [ { "id": "rs50974754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50974754" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Thr284", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30733115", "evidence": [ { "id": "rs3389310971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389310971" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Phe292", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"rs3389313970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313970" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Met365", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30733610", "evidence": [ { "id": "rs49330763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49330763" } ] } ] }, { "uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "37", "end_pos": "37", "site_lbl": "Ile37", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30728682", "evidence": [ { "id": "rs218176668", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q6NSU3-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Asn94", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "14", "chr_pos": "30730776", "evidence": [ { "id": "rs260478496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260478496" } ] } ] } ], "record_id": "Q6NSU3-1" }, { "uniprot_canonical_ac": "P12813-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 601, "chemical_mass": 64738.0, "gene_names": "Nr4a1;GFRP1;Gfrp;Hbr-1;Hbr1;Hmr;N10;NGFI-B;NGFIB;NP10;NUR77-1;NUR77-2;Nr4a1;Nur77;TIS1;TR3;nur77", "protein_name": "Nuclear receptor subfamily 4 group A member 1", "disease": [ { "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:4783", "name": "mesangial proliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4783", "evidence": [ { "id": "4783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "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": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "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": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "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": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "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": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "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": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P12813", "url": "https://www.uniprot.org/uniprotkb/P12813" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { 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"Q09163", "url": "https://www.uniprot.org/uniprotkb/Q09163" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q09163", "url": "https://www.uniprot.org/uniprotkb/Q09163" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q09163", "url": "https://www.uniprot.org/uniprotkb/Q09163" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q09163", "url": "https://www.uniprot.org/uniprotkb/Q09163" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": 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"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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "ACTSTPCANNGTCVDLEK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": 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"comment": "", "icn3d_view": {}, "start_pos": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "G86503RS", "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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "G91473PK", "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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "G91636VS", "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": 100, "start_aa": "Asn", "end_pos": 100, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn100", "evidence": [ { "id": "9118998", "database": "PubMed", "url": 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Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G10995NB", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G37626XQ", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "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": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFC->KFC).", "chr_id": "12", "chr_pos": "109425623", "evidence": [ { "id": "rs3389227855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227855" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G03584KV", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G10995NB", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G37626XQ", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "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": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G96881BQ", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Thr258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Thr271", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "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": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: SER-94 AND SER-216 ; SER-94 AND SER-216", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] } ], "record_id": "Q09163-1" }, { "uniprot_canonical_ac": "Q9DAM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 38260.0, "gene_names": "Fank1;1700007B22Rik;FANK1S;Fank1", "protein_name": "Fibronectin type 3 and ankyrin repeat domains 1 protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "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": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DAM9-1" }, { "uniprot_canonical_ac": "A2AUU0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 31670.0, "gene_names": "Mettl8;Mettl8;Tip", "protein_name": "tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial", "disease": [], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial translation", "id": "GO:0070131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070131", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrial tRNA modification", "id": "GO:0070900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070900", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA C3-cytosine methylation", "id": "GO:0106217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106217", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mRNA methyltransferase activity", "id": "GO:0008174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008174", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA (cytidine-3-)-methyltransferase activity", "id": "GO:0052735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052735", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "RNA methyltransferase activity", "id": "GO:0008173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008173", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AUU0-1" }, { "uniprot_canonical_ac": "Q8BHE1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 28396.0, "gene_names": "Gemin8;B130034M20Rik;B930082C09Rik;Fam51a1;Gemin8;gemin-8", "protein_name": "Gem-associated protein 8", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "SMN-Sm protein complex", "id": "GO:0034719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034719", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "Gemini of Cajal bodies", "id": "GO:0097504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097504", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHE1-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ] } ] } ], "record_id": "Q8BHE1-1" }, { "uniprot_canonical_ac": "Q07646-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 335, "chemical_mass": 38907.0, "gene_names": "Mest;121a;Mest;Peg1", "protein_name": "Mesoderm-specific transcript protein", "disease": [ { "disease_id": "DOID:0050476", "name": "Barth syndrome", "description": "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.", "url": "https://disease-ontology.org/term/DOID:0050476", "evidence": [ { "id": "0050476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050476" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" } ], "biological_process": [ { "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": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "radial glia-guided pyramidal neuron migration", "id": "GO:0140650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140650", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "negative regulation of glycoprotein biosynthetic process", "id": "GO:0010561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010561", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q07646-1", "start_pos": "163", "end_pos": "163", "site_lbl": "Asn163", "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": 163, "start_aa": "Asn", "end_pos": 163, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn163", "evidence": [ { "id": "Q07646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q07646#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q07646-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Asp147", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on inhibition of canonical Wnt signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" }, { "database": "PubMed", "id": "21375506", "url": "https://glygen.org/publication/PubMed/21375506" } ] } ] } ], "record_id": "Q07646-1" }, { "uniprot_canonical_ac": "Q8K214-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K214", "url": "https://www.uniprot.org/uniprotkb/Q8K214" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 706, "chemical_mass": 78669.0, "gene_names": "Scmh1;Scmh1;Scml1;Scml3", "protein_name": "Polycomb protein SCMH1", "disease": [], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q8K214", "url": "https://www.uniprot.org/uniprotkb/Q8K214" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "Q8K214", "url": 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resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": 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activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005180" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Val241", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111620333", "evidence": [ { "id": "rs3388980265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388980265" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ala283", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111620029", "evidence": [ { "id": "rs220855249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220855249" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ala297", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111619987", "evidence": [ { "id": "rs3389006045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006045" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Pro322", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111618792", "evidence": [ { "id": "rs3389017782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017782" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Gly344", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111618726", "evidence": [ { "id": "rs3388999251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999251" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Val401", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616947", "evidence": [ { "id": "rs3399131754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399131754" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616948", "evidence": [ { "id": "rs3398686448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398686448" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616945", "evidence": [ { "id": "rs3398686469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398686469" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Asp405", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616936", "evidence": [ { "id": "rs3399580530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399580530" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Thr406", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616933", "evidence": [ { "id": "rs3399854956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399854956" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Ala407", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616929", "evidence": [ { "id": "rs3399854922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399854922" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Val420", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616891", "evidence": [ { "id": "rs221135779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221135779" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ala440", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616831", "evidence": [ { "id": "rs3402644581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402644581" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Pro480", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615889", "evidence": [ { "id": "rs256334310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256334310" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615868", "evidence": [ { "id": "rs227387246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227387246" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Arg489", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615862", "evidence": [ { "id": "rs260031236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260031236" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Val493", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615850", "evidence": [ { "id": "rs3388999266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999266" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Arg512", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615793", "evidence": [ { "id": "rs223669014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223669014" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Glu517", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615779", "evidence": [ { "id": "rs3399598199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399598199" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Leu519", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615772", "evidence": [ { "id": "rs3399642746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399642746" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ala521", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615767", "evidence": [ { "id": "rs3389008796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389008796" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Trp522", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615762", "evidence": [ { "id": "rs3388988152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388988152" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Trp526", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615752", "evidence": [ { "id": "rs3388999287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999287" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Arg527", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615749", "evidence": [ { "id": "rs3388963731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388963731" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Pro535", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615725", "evidence": [ { "id": "rs3389005137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005137" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Gln553", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615669", "evidence": [ { "id": "rs3399107956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399107956" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "560", "end_pos": "560", "site_lbl": "His560", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615649", "evidence": [ { "id": "rs3399698752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399698752" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Glu642", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614363_111614364insACCTCAACCATCAC", "evidence": [ { "id": "rs3412868916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412868916" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Val698", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614050", "evidence": [ { "id": "rs32619831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32619831" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Leu700", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614043", "evidence": [ { "id": "rs3399712443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399712443" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Pro712", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614007", "evidence": [ { "id": "rs3399107930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399107930" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Glu757", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613790", "evidence": [ { "id": "rs3389010425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010425" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Glu759", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613785", "evidence": [ { "id": "rs3389005198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005198" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Leu760", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613782", "evidence": [ { "id": "rs3389017796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017796" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ile775", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613736", "evidence": [ { "id": "rs864264140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864264140" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Tyr786", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613702", "evidence": [ { "id": "rs3389016966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016966" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Cys787", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613701", "evidence": [ { "id": "rs3388999259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999259" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ala861", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111612984", "evidence": [ { "id": "rs3389013976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013976" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Val877", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111612937", "evidence": [ { "id": "rs236241445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236241445" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Val910", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111610764", "evidence": [ { "id": "rs3388988150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388988150" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Thr914", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111610751", "evidence": [ { "id": "rs238343377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238343377" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Val920", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111610733", "evidence": [ { "id": "rs220733522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220733522" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Asn948", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and 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"sequence_mut": "A", "comment": "Little or no effect. 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"" }, { "name": "box H/ACA snoRNP complex", "id": "GO:0031429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031429", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "box H/ACA telomerase RNP complex", "id": "GO:0090661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090661", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "ribonucleoprotein 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"pseudouridine synthesis", "id": "GO:0001522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9CY66-1" }, { "uniprot_canonical_ac": "Q78JE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 44203.0, "gene_names": "Fbxo22;0610033L19Rik;1600016C16Rik;Fbx22;Fbxo22", "protein_name": "F-box only protein 22", "disease": [], "biological_process": [ { "name": "regulation of myotube differentiation", "id": "GO:0010830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010830", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "regulation of skeletal muscle fiber development", "id": "GO:0048742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048742", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q78JE5-1" }, { "uniprot_canonical_ac": "P08101-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 330, "chemical_mass": 36695.0, "gene_names": "Fcgr2b;Fcgr2;CD32;F630109E10Rik;Fc[g]RII;FcgRII;Fcgr2a;Fcgr2b;Fcgr2;Fcr-2;Fcr-3;Ly-17;Ly-m20;LyM-1;Lym-1;fcRII", "protein_name": "Low affinity immunoglobulin gamma Fc region receptor II", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "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:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080179", "name": "haemophilus meningitis", "description": "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.", "url": "https://disease-ontology.org/term/DOID:0080179", "evidence": [ { "id": "0080179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080179" } ], "weight": 0.0 }, { "disease_id": "DOID:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "weight": 0.0 }, { "disease_id": "DOID:1098", "name": "hemolytic disease of the fetus", "description": "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.", "url": "https://disease-ontology.org/term/DOID:1098", "evidence": [ { "id": "1098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1098" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the 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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1556", "name": "arthus reaction", "description": "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.", "url": "https://disease-ontology.org/term/DOID:1556", "evidence": [ { "id": "1556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1556" } ], "weight": 0.0 }, { "disease_id": "DOID:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID: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:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "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": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "regulation of dendritic spine maintenance", "id": "GO:1902950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902950", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of response to endoplasmic reticulum stress", "id": "GO:1905898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905898", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "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": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "antibody-dependent cellular cytotoxicity", "id": "GO:0001788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001788", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "Fc receptor-mediated immune complex endocytosis", "id": "GO:0160006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160006", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903381", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "regulation of immune response", 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"uniprot_canonical_ac": "Q3UPY5-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Arg7", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "26717661", "evidence": [ { "id": "rs3388978829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388978829" } ] } ] } ], "record_id": "Q3UPY5-1" }, { "uniprot_canonical_ac": "B1AYB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AYB6", "url": "https://www.uniprot.org/uniprotkb/B1AYB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1498, "chemical_mass": 160292.0, "gene_names": "Mbd5;9430004D19Rik;C030040A15Rik;Gm1630;Mbd5", "protein_name": "Methyl-CpG-binding domain protein 5", "disease": [ { "disease_id": "DOID:0060041", "name": "autism 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060307", "name": "autosomal dominant intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal dominant inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060307", "evidence": [ { "id": "0060307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060307" } ], "weight": 0.0 }, { "disease_id": "DOID:0070031", "name": "autosomal dominant intellectual developmental disorder 1", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of 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} ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": 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"" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "9+2 motile cilium", "id": "GO:0097729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097729", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "sperm head-tail coupling apparatus", "id": "GO:0120212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120212", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" } ], "biological_process": [ { "name": "axonemal central apparatus assembly", "id": "GO:1904158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904158", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "epithelial cilium movement involved in extracellular fluid movement", "id": "GO:0003351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003351", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "Q80Y75", "url": "https://www.uniprot.org/uniprotkb/Q80Y75" } ], "pmid": "" }, { "name": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" } ], "biological_process": [ { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" }, { "name": "DNA catabolic process", "id": "GO:0006308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006308", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" }, { "name": "corneocyte development", "id": "GO:0003335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003335", "evidence": [ { "database": "UniProtKB", "id": "Q9D1G0", "url": "https://www.uniprot.org/uniprotkb/Q9D1G0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D1G0-1" }, { "uniprot_canonical_ac": "O35723-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 242, "chemical_mass": 26679.0, "gene_names": "Dnajb3;Dnajb3;Hsj3;MSJ-1;Msj1", "protein_name": "DnaJ homolog subfamily B member 3", "disease": [ { "disease_id": "DOID:0110305", "name": "autosomal dominant limb-girdle muscular dystrophy type 1", "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0110305", "evidence": [ { "id": "0110305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110305" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O35723-1" }, { "uniprot_canonical_ac": "P22387-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 202, "chemical_mass": 22809.0, "gene_names": "Edn1;ET-1;Edn1;PPET1;preproET", "protein_name": "Endothelin-1", "disease": [ { "disease_id": "DOID:0050152", "name": "aspiration pneumonia", "description": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.", "url": "https://disease-ontology.org/term/DOID:0050152", "evidence": [ { "id": "0050152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050152" } ], "weight": 0.0 }, { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "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:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.", "url": "https://disease-ontology.org/term/DOID:1687", "evidence": [ { "id": "1687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1891", "name": "optic nerve disease", "description": "A cranial nerve disease that is located_in the optic nerve.", "url": "https://disease-ontology.org/term/DOID:1891", "evidence": [ { "id": "1891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1891" } ], "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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5845", "name": "anterolateral myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:5845", "evidence": [ { "id": "5845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5845" } ], "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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8252", "name": "chronic rhinitis", "description": "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.", "url": "https://disease-ontology.org/term/DOID:8252", "evidence": [ { "id": "8252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8252" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID: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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "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": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of renal sodium excretion", "id": "GO:0035815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035815", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": 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"response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin biosynthetic process", "id": "GO:0031394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031394", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { 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"rhythmic excitation", "id": "GO:0043179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043179", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of chemokine-mediated signaling pathway", "id": "GO:0070101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070101", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to mineralocorticoid stimulus", "id": "GO:0071389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071389", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to salt", "id": "GO:1902074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902074", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 446, "chemical_mass": 49669.0, "gene_names": "Drd3;D3R;Drd3", "protein_name": "D(3) dopamine receptor", "disease": [ { "disease_id": "DOID:0050425", "name": "restless legs syndrome", "description": "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.", "url": "https://disease-ontology.org/term/DOID:0050425", "evidence": [ { "id": "0050425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050425" } ], "weight": 0.0 }, { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], 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"name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "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": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "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": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": 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"P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "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": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": 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"gene_names": "Dtd2;4930578F06Rik;6530401N04Rik;ATD;B830049N13Rik;Dtd2", "protein_name": "D-aminoacyl-tRNA deacylase 2", "disease": [], "biological_process": [ { "name": "tRNA metabolic process", "id": "GO:0006399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006399", "evidence": [ { "database": "UniProtKB", "id": "Q8BHA3", "url": "https://www.uniprot.org/uniprotkb/Q8BHA3" } ], "pmid": "" }, { "name": "aminoacyl-tRNA metabolism involved in translational fidelity", "id": "GO:0106074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106074", "evidence": [ { "database": "UniProtKB", "id": "Q8BHA3", "url": "https://www.uniprot.org/uniprotkb/Q8BHA3" } ], "pmid": "" } ], "molecular_function": [ { "name": "D-tyrosyl-tRNA(Tyr) deacylase activity", "id": "GO:0051500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051500", "evidence": [ { "database": "UniProtKB", "id": "Q8BHA3", "url": "https://www.uniprot.org/uniprotkb/Q8BHA3" } ], "pmid": "" }, { "name": "Ala-tRNA(Thr) deacylase activity", 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"kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BI55", "url": "https://www.uniprot.org/uniprotkb/Q8BI55" } ] } ] } ], "record_id": "Q8BI55-1" }, { "uniprot_canonical_ac": "Q8BLD9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLD9", "url": "https://www.uniprot.org/uniprotkb/Q8BLD9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 478, "chemical_mass": 53076.0, "gene_names": "Drd5;D5R;Drd-5;Drd1b;Drd5;Gpcr1", "protein_name": "D(1B) dopamine receptor", "disease": [ { "disease_id": "DOID:0060040", "name": "pervasive developmental disorder", "description": "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.", "url": "https://disease-ontology.org/term/DOID:0060040", "evidence": [ { "id": 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pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:1587", "name": "thrombocytopenia due to platelet alloimmunization", "description": "", "url": "https://disease-ontology.org/term/DOID:1587", "evidence": [ { "id": "1587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1587" } ], "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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GPI anchor binding", "id": "GO:0034235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034235", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgE receptor activity", "id": "GO:0019767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019767", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgE binding", "id": "GO:0019863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019863", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgG binding", "id": "GO:0019864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019864", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgG receptor activity", "id": "GO:0019770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019770", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "low-affinity IgG receptor activity", "id": "GO:0019772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019772", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "immune receptor activity", "id": "GO:0140375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140375", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" } ], "biological_process": [ { "name": "dendritic cell antigen processing and presentation", "id": "GO:0002468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002468", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "natural killer cell degranulation", "id": "GO:0043320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043320", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "antibody-dependent cellular cytotoxicity", "id": "GO:0001788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001788", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "Fc receptor-mediated immune complex endocytosis", "id": "GO:0160006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160006", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "external side of 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"site_lbl": "Asn179", "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": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "A0A0B4J1G0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ] }, { "uniprot_canonical_ac": "A0A0B4J1G0-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "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": 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[ { "database": "UniProtKB", "id": "P26151", "url": "https://www.uniprot.org/uniprotkb/P26151" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 404, "chemical_mass": 44888.0, "gene_names": "Fcgr1;CD64;Fcg1;FcgammaRI;Fcgr1;IGGHAFC", "protein_name": "High affinity immunoglobulin gamma Fc receptor I", "disease": [ { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": 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0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578251", "evidence": [ { "id": "rs3388673045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673045" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Gln369", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570187", "evidence": [ { "id": "rs3388678291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678291" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Lys375", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570169", "evidence": [ { "id": "rs3388672989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388672989" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Glu377", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570163", "evidence": [ { "id": "rs3388668991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668991" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Gly381", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570152", "evidence": [ { "id": "rs3388668946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668946" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Val385", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570140", "evidence": [ { "id": "rs28327684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28327684" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578235", "evidence": [ { "id": "rs3388678244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678244" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Pro391", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570122", "evidence": [ { "id": "rs3388683571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683571" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Phe424", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569942", "evidence": [ { "id": "rs3388674547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388674547" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569638", "evidence": [ { "id": "rs3388681957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681957" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Gly481", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569603", "evidence": [ { "id": "rs3388668954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668954" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Trp485", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569590", "evidence": [ { "id": "rs3388681116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681116" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Asp491", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569573", "evidence": [ { "id": "rs3394232499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394232499" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Leu497", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569555", "evidence": [ { "id": "rs3388681053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681053" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Gly498", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569551", "evidence": [ { "id": "rs3393897082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393897082" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Met501", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569543", "evidence": [ { "id": "rs3394176084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394176084" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Phe514", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569502", "evidence": [ { "id": "rs3388680670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388680670" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Val539", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569226", "evidence": [ { "id": "rs28327690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28327690" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Glu54", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578188", "evidence": [ { "id": "rs3388683632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683632" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Arg565", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568961", "evidence": [ { "id": "rs3388678391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678391" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Val573", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568936", "evidence": [ { "id": "rs3388673031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673031" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Lys577", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568924", "evidence": [ { "id": "rs3388668406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668406" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Arg596", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568788", "evidence": [ { "id": "rs3393897136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393897136" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Lys614", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568734", "evidence": [ { "id": "rs3388684454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684454" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Gln618", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568723", "evidence": [ { "id": "rs3388681034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681034" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Tyr667", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568473_43568474insAGGCTACGCAGACCAGACCTATGATGCATGGGTC", "evidence": [ { "id": "rs3394174974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394174974" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ala669", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568459", "evidence": [ { "id": "rs234636229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234636229" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568451", "evidence": [ { "id": "rs260239102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260239102" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ala686", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568310", "evidence": [ { "id": "rs3394297350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394297350" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Val689", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568300", "evidence": [ { "id": "rs3394174965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394174965" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Val695", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568283", "evidence": [ { "id": "rs255716973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255716973" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Ala716", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568219", "evidence": [ { "id": "rs3388681615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681615" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Arg719", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568210", "evidence": [ { "id": "rs3388661198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661198" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Gln71", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578136", "evidence": [ { "id": "rs48573091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48573091" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Val769", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567898", "evidence": [ { "id": "rs3388668961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668961" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Thr775", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567879", "evidence": [ { "id": "rs3388668399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668399" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Ala785", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567850", "evidence": [ { "id": "rs3388668981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668981" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Pro797", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567813", "evidence": [ { "id": "rs3413041954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413041954" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Cys80", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578108", "evidence": [ { "id": "rs3388681937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681937" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Trp830", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567456", "evidence": [ { "id": "rs3388681686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681686" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Cys858", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567374", "evidence": [ { "id": "rs3388684408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684408" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567373", "evidence": [ { "id": "rs3388661275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661275" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Trp875", "weight": 0.0, "snv": [ { "sequence_org": "W", 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