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"https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "17070542", "url": "https://glygen.org/publication/PubMed/17070542" }, { "database": "PubMed", "id": "23625804", "url": "https://glygen.org/publication/PubMed/23625804" }, { "database": "PubMed", "id": "18552350", "url": "https://glygen.org/publication/PubMed/18552350" } ] }, { "start_pos": 147, "end_pos": 147, "sequence_org": "C", "sequence_mut": "S", "comment": "Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-112.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "17070542", "url": "https://glygen.org/publication/PubMed/17070542" }, { "database": "PubMed", "id": "23625804", "url": "https://glygen.org/publication/PubMed/23625804" }, { "database": "PubMed", "id": "18552350", "url": "https://glygen.org/publication/PubMed/18552350" } ] }, { "start_pos": 51, 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58, "end_pos": 58, "sequence_org": "C", "sequence_mut": "S", "comment": "Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-112 and S-147.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "17070542", "url": "https://glygen.org/publication/PubMed/17070542" }, { "database": "PubMed", "id": "23625804", "url": "https://glygen.org/publication/PubMed/23625804" }, { "database": "PubMed", "id": "18552350", "url": "https://glygen.org/publication/PubMed/18552350" } ] }, { "start_pos": 7, "end_pos": 7, "sequence_org": "C", "sequence_mut": "S", "comment": "Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-58; S-112 and S-147.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "17070542", "url": 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"database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "98.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000142168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000142168" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P00441", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00441" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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"type": "PubMed", "id": "10029572", "url": "https://glygen.org/publication/PubMed/10029572" } ] }, { "title": "The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited.", "journal": "J. Mol. Biol.", "date": "1999", "authors": "Ferraroni M, Rypniewski W, Wilson KS, Viezzoli MS, Banci L, Bertini I, Mangani S", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10329151", "url": "https://glygen.org/publication/PubMed/10329151" } ] }, { "title": "Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Ratovitski T, Corson LB, Strain J, Wong P, Cleveland DW, Culotta VC, Borchelt DR", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10400992", "url": "https://glygen.org/publication/PubMed/10400992" } ] }, { "title": "A SOD1 gene mutation in a patient with slowly progressing familial ALS.", "journal": "Neurology", "date": "1999", "authors": "Penco S, Schenone A, Bordo D, Bolognesi M, Abbruzzese M, Bugiani O, Ajmar F, Garre C", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "reference": [ { "type": "PubMed", "id": "10430435", "url": "https://glygen.org/publication/PubMed/10430435" } ] }, { "title": "Characterization of human and murine PMP20 peroxisomal proteins that exhibit antioxidant activity in vitro.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamashita H, Avraham S, Jiang S, London R, Van Veldhoven PP, Subramani S, Rogers RA, Avraham H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10514471", "url": "https://glygen.org/publication/PubMed/10514471" } ] }, { "title": "Cloning and characterization of AOEB166, a novel mammalian antioxidant enzyme of the peroxiredoxin family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Knoops B, Clippe A, Bogard C, Arsalane K, Wattiez R, Hermans C, Duconseille E, Falmagne P, Bernard A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10521424", "url": "https://glygen.org/publication/PubMed/10521424" } ] }, { "title": "Active and inhibited human catalase structures: ligand and NADPH binding and catalytic 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superoxide dismutase mutation within the same country.", "journal": "European journal of neurology", "date": "2000", "authors": "Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P, Malafosse A, Rouleau GA, Camu W", "evidence": [ { "database": "dbSNP", "id": "rs121912459", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121912459" } ], "reference": [ { "type": "PubMed", "id": "10809943", "url": "https://glygen.org/publication/PubMed/10809943" } ] }, { "title": "Mitochondrial GPx1 decreases induced but not basal oxidative damage to mtDNA in T47D cells.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Legault J, Carrier C, Petrov P, Renard P, Remacle J, Mirault ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10833429", "url": "https://glygen.org/publication/PubMed/10833429" } ] }, { "title": "The role of cellular glutathione peroxidase redox regulation in the suppression of tumor cell growth by manganese superoxide dismutase.", "journal": "Cancer research", "date": "2000", "authors": "Li S, Yan T, Yang JQ, Oberley TD, Oberley LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10919671", "url": "https://glygen.org/publication/PubMed/10919671" } ] }, { "title": "The kinetics of the reduction of cytochrome c by the superoxide anion radical.", "journal": "Biochimica et biophysica acta", "date": "1976", "authors": "Koppenol WH, van Buuren KJ, Butler J, Braams R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10982", "url": "https://glygen.org/publication/PubMed/10982" } ] }, { "title": "Mechanism of Cu,Zn-superoxide 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "regulation of protein kinase activity", "id": "GO:0045859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045859", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902177", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "action potential initiation", "id": "GO:0099610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099610", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of reproductive process", "id": "GO:2000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000242", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "protein phosphatase 2B binding", "id": "GO:0030346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030346", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "superoxide dismutase activity", "id": "GO:0004784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004784", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" }, { "name": "ion binding", "id": "GO:0043167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043167", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 87, "end_pos": 89, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Palmitoylation helps nuclear targeting and decreases catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "22496122", "url": "https://glygen.org/publication/PubMed/22496122" } ] }, { "annotation": "Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "24140062", "url": "https://glygen.org/publication/PubMed/24140062" } ] }, { "annotation": "The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "20600836", "url": "https://glygen.org/publication/PubMed/20600836" } ] }, { "annotation": "Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.", "evidence": [ { "database": "UniProtKB", "id": "P00441", "url": "https://www.uniprot.org/uniprot/P00441" }, { "database": "PubMed", "id": "19741096", "url": "https://glygen.org/publication/PubMed/19741096" }, { "database": "PubMed", "id": "12145308", "url": "https://glygen.org/publication/PubMed/12145308" } ] } ], "interactions": [ { "interactor_id": "G19059PI", "interaction_name": "matrixdb:Chondroitin Sulfate A(short label)", "interaction_type": "Glycosaminoglycan", "evidence": [ { "database": "MatrixDB", "id": "GAG_4", "url": "http://matrixdb.univ-lyon1.fr/cgi-bin/current/newPort?type=biomolecule&value=GAG_4" }, { "database": "PubMed", "id": "3223905", "url": "https://glygen.org/publication/PubMed/3223905" } ] } ], "reactions": [ { "id": "20696", "name": "", "equation": "2 H(+) + 2 superoxide = H2O2 + O2", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08420-1", "P07895-1", "P07632-1", "Q9JK72-1", "P00441-1", "P04179-1", "P08294-1", "P09671-1", "P08228-1", "O09164-1", "Q9WU84-1", "P00445-1", "P00447-1", "Q54TW8-1", "Q54G70-1", "Q54RN1-1", "Q54TU5-1", "Q55BJ9-1", "Q54RQ1-1", "Q55GQ5-1", "P61851-1", "Q00637-1", "Q7JR71-1", "Q9VBK8-1", "E1JH26-1" ], "evidence": [ { "id": "20696", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/20696" } ] }, { "id": "R-HSA-3299691", "name": "SOD1 catalyzes 2H+ + 2O2.- => O2 + H2O2 (cytosol)", "equation": "", "summary": "Cu-Zn superoxide dismutase (SOD1), originally known as erythrocuprein, catalyzes the reaction of two molecules of superoxide (O2.-) to yield one molecule of hydrogen peroxide (H2O2) and one molecule of oxygen (O2) (McCord and Fridovich 1969 assayed both bovine and human Cu-Zn superoxide dismutase, the human sample provided by Carrico and Deutsch). Diffusion of hydrogen peroxide, the product of SOD1, across the cytosol is limited (Mishina et al. 2011)", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-1222424" ], "output_participant_list": [ "R-ALL-29368" ], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3299691", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299691" } ] }, { "id": "R-HSA-3299753", "name": "CCS transfers Cu to SOD1 and oxidizes cysteine residues in SOD1", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. After initial heterodimerization between SOD1 and CCS, the copper atom is transferred, intramolecular cysteine disulfide bonds are formed in SOD1, and SOD1 dimerizes (Banci et al. 2012, Casareno et al. 1998, Culotta et al. 1997, Rae et al. 2001, Brown et al. 2004, Carroll et al. 2006, Kawamata and Manfredi 2008). The transfer of copper to SOD1 requires oxygen but it is unknown at which step the oxygen acts (Brown et al. 2004). There is also a CCS-independent, oxygen-independent pathway of maturation of SOD1 (Leitch et al. 2009) whose molecular details and physiological role are not well characterized.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3299753", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299753" } ] }, { "id": "R-HSA-3697860", "name": "SOD1:Zn2+ apoenzyme binds CCS:Zn2+:2xCu1+", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom (Culotta et al. 1997, Casareno et al. 1998, Rae et al. 2001, Brown et al. 2004, Banci et al. 2012). The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS (Rae et al. 2001, Banci et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3697860", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3697860" } ] }, { "id": "R-HSA-3777112", "name": "SOD1 catalyzes 2H+ + O2.- => O2 + H2O2 (mitochondrial intermembrane space)", "equation": "", "summary": "A portion of SOD1 is located in the mitochondrial intermembrane space (IMS) where it catalyzes the formation of oxygen (O2) and hydrogen peroxide (H2O2) from superoxide (O2.-) (He et al. 2011, Higgins et al. 2002, inferred from rat in Okado-Matsumoto and Fridovich 2001).", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3777112", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3777112" } ] }, { "id": "R-HSA-3780958", "name": "SOD1:Zn2+ apoenzyme binds CCS:Cu1+ (mitochondrial)", "equation": "", "summary": "As inferred from the cytosolic reaction and from the mouse mitochondrial reaction, Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS. The amounts of CCS and SOD1 in the intermembrane space appear to be regulated by the concentration of oxygen. Mutations in SOD1 are responsible for familial amyotrophic lateral sclerosis (fALS) and cause unregulated localization and aggregation of SOD1 in the intermembrane space (reviewed in Kawamata and Manfredi 2010).", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3780958", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780958" } ] }, { "id": "R-HSA-3780979", "name": "CCS transfers Cu to SOD1 (mitochondrial)", "equation": "", "summary": "As inferred from the cytosolic reaction and from the mitochondrial reaction in mouse, Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom. After initial heterodimerization between SOD1 and CCS, the copper atom is transferred, intramolecular cysteine disulfide bonds are formed in SOD1, and SOD1 dimerizes.", "cellular_location": "mitochondrial intermembrane space", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-3780979", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3780979" } ] }, { "id": "R-HSA-482772", "name": "Release of platelet cytosolic components", "equation": "", "summary": "Platelet releasate contains a range of proteins that do not originate in specialized storage granules. In some cases platelet lysis may contribute to the presence of these proteins in the platelet relesate.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8WZ42-1", "O94919-1", "P00441-1", "P68366-1" ], "evidence": [ { "id": "R-HSA-482772", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-482772" } ] }, { "id": "R-HSA-8950771", "name": "Expression of SOD1", "equation": "", "summary": "Experiments using human cord blood CD4(+) T cells show 22 protein spots and 20 protein spots, upregulated and downregulated proteins respectively, following Interleukin-12 stimulation (Rosengren et.al, 2005). Among the up-regulated proteins is :Superoxide dismutase [Cu-Zn](SOD1).", "cellular_location": "mitochondrial intermembrane space, nucleoplasm", "input_participant_list": [ "R-HSA-8950473" ], "output_participant_list": [ "R-HSA-3777082" ], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-8950771", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8950771" } ] }, { "id": "R-HSA-8951723", "name": "2xSOD1:CCS:Zn2+:2xCu1+ dimer dissociates", "equation": "", "summary": "Copper chaperone of superoxide dismutase (CCS) transfers a copper(I) atom to a SOD1 monomer that already contains a Zn atom (Culotta et al. 1997, Casareno et al. 1998, Rae et al. 2001, Brown et al. 2004, Banci et al. 2012). The reaction proceeds by a two step mechanism in which SOD1 first forms heterodimers with CCS (Rae et al. 2001, Banci et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00441-1" ], "evidence": [ { "id": "R-HSA-8951723", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951723" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1222424", "participant_name": "O2.- [cytosol]", "crossref": [ { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": 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"https://www.uniprot.org/uniprot/Q54TW8" } ] } ] }, { "uniprot_ac": "Q55BJ9", "gene_name": "sod2", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q55BJ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55BJ9" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q55BJ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55BJ9" } ] } ] }, { "uniprot_ac": "Q55GQ5", "gene_name": "sodA", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q55GQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55GQ5" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q55GQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55GQ5" } ] } ] }, { "uniprot_ac": "Q7JR71", "gene_name": "Sod3", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q7JR71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JR71" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q7JR71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JR71" } ] } ] }, { "uniprot_ac": "Q8WZ42", "gene_name": "TTN", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q8WZ42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WZ42" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q8WZ42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WZ42" } ] } ] }, { "uniprot_ac": "Q9JK72", "gene_name": "Ccs", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q9JK72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9JK72" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q9JK72", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9JK72" } ] } ] }, { "uniprot_ac": "Q9VBK8", "gene_name": "Sodq", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q9VBK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBK8" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q9VBK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBK8" } ] } ] }, { "uniprot_ac": "Q9WU84", "gene_name": "Ccs", "activity": [ { "ec_number": "1.15.1.1", "activity": "2 H(+) + 2 superoxide = H2O2 + O2.", "evidence": [ { "id": "Q9WU84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WU84" } ] }, { "ec_number": "1.15.1.1", "activity": "", "evidence": [ { "id": "Q9WU84", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WU84" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", 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{ "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ 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