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"id": "MIM:156240", "resource": "MIM", "url": "https://www.omim.org/entry/156240", "name": "Mesothelioma, malignant", "description": "Mesothelioma, malignant" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs779540328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779540328" }, { "id": "rs779540328", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779540328" }, { "id": "rs779540328", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779540328#frequency_tab" }, { "id": "rs779540328", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779540328" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 44, "end_pos": 44, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRC->NRS).", "chr_id": "12", "chr_pos": "7304462", "ref_nt": "C", "alt_nt": 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"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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P0C7M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7M7" } ], "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 oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria.", "journal": "Journal of biochemical and molecular toxicology", "date": "2003", "authors": "Vessey DA, Lau E, Kelley M, Warren RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-177128", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177128" } ], "reference": [ { "type": "PubMed", "id": "12616642", "url": "https://glygen.org/publication/PubMed/12616642" } ] }, { "title": "Interaction of serum and sodium salicylate: changes during acute infection and its influence on pharmacological activity.", "journal": "Bulletin of the Johns Hopkins Hospital", "date": "1960", "authors": "REYNOLDS RC, CLUFF LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "13741103", "url": "https://glygen.org/publication/PubMed/13741103" } ] }, { "title": "Glucuronidation of the aspirin metabolite salicylic acid by expressed UDP-glucuronosyltransferases and human liver microsomes.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2006", "authors": "Kuehl GE, Bigler J, Potter JD, Lampe JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "16258079", "url": "https://glygen.org/publication/PubMed/16258079" } ] }, { "title": "Substrate specificity of carboxylesterase isozymes and their contribution to hydrolase activity in human liver and small intestine.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2006", "authors": "Imai T, Taketani M, Shii M, Hosokawa M, Chiba K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "16837570", "url": "https://glygen.org/publication/PubMed/16837570" } ] }, { "title": "Human carboxylesterase isozymes: catalytic properties and rational drug design.", "journal": "Drug metabolism and pharmacokinetics", "date": "2006", "authors": "Imai T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "16858120", "url": "https://glygen.org/publication/PubMed/16858120" } ] }, { "title": "Antiplatelet agents aspirin and clopidogrel are hydrolyzed by distinct carboxylesterases, and clopidogrel is transesterificated in the presence of ethyl alcohol.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2006", "authors": "Tang M, Mukundan M, Yang J, Charpentier N, LeCluyse EL, Black C, Yang D, Shi D, Yan B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "16943252", "url": "https://glygen.org/publication/PubMed/16943252" } ] }, { "title": "Molecular mechanism of phase I and phase II drug-metabolizing enzymes: implications for detoxification.", "journal": "International review of cytology", "date": "2007", "authors": "Iyanagi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "17482904", "url": "https://glygen.org/publication/PubMed/17482904" } ] }, { "title": "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.", "journal": "J. Lipid Res.", "date": "2007", "authors": "Watkins PA, Maiguel D, Jia Z, Pevsner J", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "reference": [ { "type": "PubMed", "id": "17762044", "url": "https://glygen.org/publication/PubMed/17762044" } ] }, { "title": "Model representation of salicylate pharmacokinetics using unbound plasma salicylate concentrations and metabolite urinary excretion rates following a single oral dose.", "journal": "Journal of pharmacokinetics and biopharmaceutics", "date": "1991", "authors": "Shen J, Wanwimolruk S, Purves RD, McQueen EG, Roberts MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "1783992", "url": "https://glygen.org/publication/PubMed/1783992" } ] }, { "title": "Reaction of human albumin with aspirin in vitro: mass spectrometric identification of acetylated lysines 199, 402, 519, and 545.", "journal": "Biochemical pharmacology", "date": "2010", "authors": "Liyasova MS, Schopfer LM, Lockridge O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "19836360", "url": "https://glygen.org/publication/PubMed/19836360" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_001073923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073923" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Biowaiver monograph for immediate-release solid oral dosage forms: acetylsalicylic acid.", "journal": "Journal of pharmaceutical sciences", "date": "2012", "authors": "Dressman JB, Nair A, Abrahamsson B, Barends DM, Groot DW, Kopp S, Langguth P, Polli JE, Shah VP, Zimmer M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "22674043", "url": "https://glygen.org/publication/PubMed/22674043" } ] }, { "title": "ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients.", "journal": "Journal of acquired immune deficiency syndromes (1999)", "date": "2014", "authors": "Guzman-Fulgencio M, Jimenez JL, Jimenez-Sousa MA, Bellon JM, Garcia-Alvarez M, Soriano V, Gijon-Vidaurreta P, Bernal-Morell E, Viciana P, Munoz-Fernandez MA, Resino S", "evidence": [ { "database": "RefSeq", "id": "NP_001073923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073923" } ], "reference": [ { "type": "PubMed", "id": "23982661", "url": "https://glygen.org/publication/PubMed/23982661" } ] }, { "title": "Aromatic hydroxylation of salicylic acid and aspirin by human cytochromes P450.", "journal": "European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences", "date": "2015", "authors": "Bojic M, Sedgeman CA, Nagy LD, Guengerich FP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "25840124", "url": "https://glygen.org/publication/PubMed/25840124" } ] }, { "title": "Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin.", "journal": "Expert Opin. Drug Metab. Toxicol.", "date": "2016", "authors": "van der Sluis R, Erasmus E", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "reference": [ { "type": "PubMed", "id": "27351777", "url": "https://glygen.org/publication/PubMed/27351777" } ] }, { "title": "Carboxylesterases in lipid metabolism: from mouse to human.", "journal": "Protein & cell", "date": "2018", "authors": "Lian J, Nelson R, Lehner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "28677105", "url": "https://glygen.org/publication/PubMed/28677105" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P0C7M7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0C7M7" }, { "database": "O-GlcNAc Atlas", "id": "P0C7M7", "url": "https://oglcnac.org/atlas/detail/P0C7M7" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "2,3-Dihydroxybenzoic acid is a product of human aspirin metabolism.", "journal": "Biochemical pharmacology", "date": "1988", "authors": "Grootveld M, Halliwell B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "3342084", "url": "https://glygen.org/publication/PubMed/3342084" } ] }, { "title": "The metabolism of aspirin in man: a population study.", "journal": "Xenobiotica; the fate of foreign compounds in biological systems", "date": "1986", "authors": "Hutt AJ, Caldwell J, Smith RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "3705620", "url": "https://glygen.org/publication/PubMed/3705620" } ] }, { "title": "Absorption kinetics of aspirin in man following oral administration of an aqueous solution.", "journal": "Journal of pharmaceutical sciences", "date": "1972", "authors": "Rowland M, Riegelman S, Harris PA, Sholkoff SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "5013373", "url": "https://glygen.org/publication/PubMed/5013373" } ] }, { "title": "Structural changes in human serum albumin induced by ingestion of acetylsalicylic acid.", "journal": "The Journal of clinical investigation", "date": "1969", "authors": "Hawkins D, Pinckard RN, Crawford IP, Farr RS", "evidence": [ { 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"url": "https://glygen.org/publication/PubMed/6487359" } ] }, { "title": "Plasma aspirin esterases in normal individuals, patients with alcoholic liver disease and rheumatoid arthritis: characterization and the importance of the enzymic components.", "journal": "European journal of clinical investigation", "date": "1980", "authors": "Rainsford KD, Ford NL, Brooks PM, Watson HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "6777177", "url": "https://glygen.org/publication/PubMed/6777177" } ] }, { "title": "Identification and partial purification of the major aspirin hydrolyzing enzyme in human blood.", "journal": "Arthritis and rheumatism", "date": "1983", "authors": "Costello PB, Green FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "6838677", "url": "https://glygen.org/publication/PubMed/6838677" } ] }, { "title": "Comparative study of human intestinal and hepatic esterases as related to enzymatic properties and hydrolizing activity for ester-type drugs.", "journal": "Japanese journal of pharmacology", "date": "1980", "authors": "Inoue M, Morikawa M, Tsuboi M, Ito Y, Sugiura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "7206363", "url": "https://glygen.org/publication/PubMed/7206363" } ] }, { "title": "Purification to homogeneity of mitochondrial acyl coa:glycine n-acyltransferase from human liver.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Mawal YR, Qureshi IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-177128", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177128" } ], "reference": [ { "type": "PubMed", "id": "7802672", "url": "https://glygen.org/publication/PubMed/7802672" } ] }, { "title": "Molecular cloning and characterization of a novel putative carboxylesterase, present in human intestine and liver.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Schwer H, Langmann T, Daig R, Becker A, Aslanidis C, Schmitz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "9144407", "url": "https://glygen.org/publication/PubMed/9144407" } ] }, { "title": "Identification of separate acyl- CoA:glycine and acyl-CoA:L-glutamine N-acyltransferase activities in mitochondrial fractions from liver of rhesus monkey and man.", "journal": "The Journal of biological chemistry", "date": "1976", "authors": "Webster LT, Siddiqui UA, Lucas SV, Strong JM, Mieyal JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-177128", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177128" } ], "reference": [ { "type": "PubMed", "id": "931988", "url": "https://glygen.org/publication/PubMed/931988" } ] }, { "title": "Identification of multispecific organic anion transporter 2 expressed predominantly in the liver.", "journal": "FEBS letters", "date": "1998", "authors": "Sekine T, Cha SH, Tsuda M, Apiwattanakul N, Nakajima N, Kanai Y, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "9650585", "url": "https://glygen.org/publication/PubMed/9650585" } ] }, { "title": "Protein binding of salicylate in uremic and normal plasma.", "journal": "Clinical pharmacology and therapeutics", "date": "1976", "authors": "Borga O, Cederlof IO, Ringberger VA, Norlin A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9749641", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641" } ], "reference": [ { "type": "PubMed", "id": "975718", "url": "https://glygen.org/publication/PubMed/975718" } ] } ], "pathway": [ { "id": "hsa:341392", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:341392", "resource": "KEGG Pathway" }, { "id": "R-HSA-177128", "name": "Conjugation of salicylate with glycine", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-177128", "resource": "Reactome", "description": "Conjugation of salicylate with glycine" }, { "id": "R-HSA-9749641", "name": "Aspirin ADME", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749641", "resource": "Reactome", "description": "Aspirin ADME" } ], "orthologs": [ { "uniprot_canonical_ac": "Q7TN78-1", "protein_name": "Acyl-coenzyme A synthetase ACSM4, mitochondrial", "gene_name": "Acsm4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKVLLRCQRLRFIWLAKPAGRHFHRDPQLWAPLTLDDFEAINRCEKPLPKNFNFAADVLDQWSLKEKSGERPANPALWWVNGKGDEVKWSFQELGSLSRKAANVLTKPCGLQRGDRVAVILPRIPEWWLINVACMRTGLVFMPGTIQLTRKDILYRLQASKAKCIVASEEVAPAVDSIASECPNLKTKLLVSPHRWDGWLSFQELLQSASEEHNCVQTGSQEPMAIYFTSGTTGSPKMAQHSQSSLGIGYALCGRYWLDLTSSDIMWNMSDTGWIKAAIGSVFSTWLRGACVFVHRMAQFNTDTFLDTLTSYPITTLCSAPTVYRMLVQQDLKRYQFKRLRHCLTGGEPLNPEVLEQWKAQTGLELYEGYGQTEVGIICANRKGEEIKPGSMGKGVVPYDVQIIDEHGNILPSGKEGEIALRLGSDRPFCFFSEYVDNPEKTDATIRRNFYITGDRGVMDDDGYLWFVGRADDVIISSGYRIGPFEVESALIEHPAVVESAVVSSPDPIRGEVVKAFIVLAAPFKSSNREKLTAELQDHVKNSTAPYKYPRKVEFVQELPKTITGKIKRNVLRDQEWGRA", "length": 580 }, "evidence": [ { "id": "45932793", "url": "http://www.informatics.jax.org/homology/45932793", "database": "MGI" }, { "id": "P0C7M7", "url": "https://omabrowser.org/oma/group/P0C7M7/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80W40-1", "protein_name": "Acyl-coenzyme A synthetase ACSM4, mitochondrial", "gene_name": "Acsm4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKVLLHCQRLRFIWLAKPAGRHFHRDSQLWAPLTLDDFEAINRCEKPLPKNFNFAADVLDQWSLKEKSGERPANPALWWVNGKGDEVKWSFQELGSLSRKAANVLTKPCGLQRGDRVAVILPRIPEWWLINVACMRTGLVFMPGTIQLTRKDILYRLQASKAKCIVASEEVAPAVDSIVSECPSLKTKLLVSPHHWDGWLNFQELLQSASEEHNCVETGSQEPMAIYFTSGTTGSPKMAQHSQGSLGIGYTLCGRYWLDLTSSDIMWNMSDTGWIKAAIGSVFSTWLRGACVFVHRMAQFDTDIFLDTLTTYPITTLCSAPTVYRMLVQKDLKRYQFKRLRHCLTGGEPLNPEVLEQWKMQTGLELYEGYGQTEVGIICANRKGEAIKPGSMGKGVVPYDVQIIDENGNILPSGKEGEIALRLKSDRPFCFFSEYVDNPEKTDATIRRNFYVTGDRGVMDDDGYFWFVGRADDVIISSGYRIGPFEVESALIEHPAVVESAVVSSPDPIRGEVVKAFIVLAAPYKCSNREKLTAELQDHVKNSTAPYKYPRKVEFVQELPKTITGKIKRNVLRDQEWGRA", "length": 580 }, "evidence": [ { "id": "45932793", "url": "http://www.informatics.jax.org/homology/45932793", "database": "MGI" }, { "id": "P0C7M7", "url": "https://omabrowser.org/oma/group/P0C7M7/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "butyrate-CoA ligase activity", "id": "GO:0047760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047760", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "decanoate-CoA ligase activity", "id": "GO:0102391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0102391", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "fatty-acyl-CoA synthase activity", "id": "GO:0004321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004321", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "fatty acid ligase activity", "id": "GO:0015645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015645", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "acyl-CoA metabolic process", "id": "GO:0006637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006637", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P0C7M7", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 268, "end_pos": 270, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "33623", "name": "", "equation": "ATP + CoA + dodecanoate = AMP + diphosphate + dodecanoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q7TN78-1", "Q63151-1", "P0C7M7-1", "Q08AH1-1", "O95573-1", "Q91VA0-1", "Q80W40-1", "Q9CZW4-1", "P30624-1", "P39518-1" ], "evidence": [ { "id": "33623", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33623" } ] }, { "id": "33627", "name": "", "equation": "ATP + CoA + decanoate = AMP + decanoyl-CoA + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70490-1", "Q7TN78-1", "P0C7M7-1", "Q08AH1-1", "Q08AH3-1", "Q68CK6-1", "Q91VA0-1", "Q8K0L3-1", "Q80W40-1", "P39518-1" ], "evidence": [ { "id": "33627", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33627" } ] }, { "id": "33631", "name": "", "equation": "ATP + CoA + octanoate = AMP + diphosphate + octanoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70490-1", "Q7TN78-1", "Q499N5-1", "Q6SKG1-1", "P0C7M7-1", "Q08AH1-1", "Q08AH3-1", "Q96CM8-1", "Q68CK6-1", "Q53FZ2-1", "Q91VA0-1", "Q8VCW8-1", "Q8K0L3-1", "Q80W40-1", "Q3UNX5-1", "P39518-1", "Q9VMR6-1" ], "evidence": [ { "id": "33631", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33631" } ] }, { "id": "43740", "name": "", "equation": "ATP + CoA + hexanoate = AMP + diphosphate + hexanoyl-CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70490-1", "Q7TN78-1", "P0C7M7-1", "Q08AH1-1", "Q08AH3-1", "Q68CK6-1", "Q91VA0-1", "Q8K0L3-1", "Q80W40-1" ], "evidence": [ { "id": "43740", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/43740" } ] }, { "id": "48340", "name": "", "equation": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70490-1", "Q7TN78-1", "Q499N5-1", "Q6AYT9-1", "Q6SKG1-1", "Q63151-1", "Q6NUN0-1", "Q53FZ2-1", "Q6P461-1", "P0C7M7-1", "Q08AH1-1", "Q08AH3-1", "Q96CM8-1", "Q68CK6-1", "O95573-1", "Q91VA0-1", "Q8VCW8-1", "Q8BGA8-1", "Q8K0L3-1", "Q80W40-1", "Q3UNX5-1", "Q9CZW4-1", "Q551W4-1", "Q8SSN6-1", "Q9VMR6-1" ], "evidence": [ { "id": "48340", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/48340" } ] }, { "id": "R-HSA-159567", "name": "ACSM2B-like proteins transform ST to ST-CoA", "equation": "", "summary": "Salicylate (ST) and ATP react with coenzyme A to form salicylate-CoA (ST-CoA), AMP, and pyrophosphate in a reaction catalyzed by xenobiotic/medium-chain fatty acid:CoA ligase (Vessey et al. 2003).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-159559" ], "output_participant_list": [], "enzyme_list": [ "Q6NUN0-1", "P0C7M7-1", "Q68CK6-1", "Q08AH3-1" ], "evidence": [ { "id": "R-HSA-159567", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159567" } ] }, { "id": "R-HSA-9749971", "name": "ACSM2B-like proteins transform 2,5-DHBA to 2,5-DHB-CoA", "equation": "", "summary": "ACSM2B-like enzymes catalyze the transfer of acyl groups onto CoA (Vessey et al, 1976). This is a necessary step for conjugation of 2,5-DHBA with glycine (Wilson et al., 1978).", "cellular_location": "mitochondrial matrix", "input_participant_list": [ "R-ALL-9750012" ], "output_participant_list": [], "enzyme_list": [ "Q6NUN0-1", "P0C7M7-1", "Q68CK6-1", "Q08AH3-1" ], "evidence": [ { "id": "R-HSA-9749971", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9749971" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-159559", "participant_name": "ST [mitochondrial matrix]", "crossref": [ { "id": "000000001554", "database": "ZINC", "url": "" }, { "id": "30762", "database": "ChEBI", "url": "" }, { "id": "C00805", "database": "COMPOUND", "url": "" }, { "id": "HMDB0302214", "database": "HMDB Metabolite", "url": "" }, { "id": "C00805", "database": "COMPOUND", "url": "" }, { "id": "30762", "database": "ChEBI", "url": "" }, { "id": "HMDB0302214", "database": "HMDB Metabolite", "url": "" }, { "id": "000000001554", "database": "ZINC", "url": "" }, { "id": "C00805", "database": "COMPOUND", "url": "" }, { "id": "30762", "database": "ChEBI", "url": "" }, { "id": "HMDB0302214", "database": "HMDB Metabolite", "url": "" }, { "id": "000000001554", "database": "ZINC", "url": "" }, { "id": "000000001554", "database": "ZINC", "url": "" }, { "id": "30762", "database": "ChEBI", "url": "" }, { "id": "C00805", "database": "COMPOUND", "url": "" }, { "id": "HMDB0302214", "database": "HMDB Metabolite", "url": "" } ] }, { "participant_id": "R-ALL-9750012", "participant_name": "2,5-DHBA [mitochondrial matrix]", "crossref": [ { "id": "000000001507", "database": "ZINC", "url": "" }, { "id": "58044", "database": "ChEBI", "url": "" }, { "id": "000000001507", "database": "ZINC", "url": "" }, { "id": "58044", "database": "ChEBI", "url": "" }, { "id": "58044", "database": "ChEBI", "url": "" }, { "id": "000000001507", "database": "ZINC", "url": "" }, { "id": "58044", "database": "ChEBI", "url": "" }, { "id": "000000001507", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O70490", "gene_name": "Acsm2", "activity": [ { "ec_number": "6.2.1.2", "activity": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O70490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70490" } ] }, { "ec_number": "6.2.1.2", "activity": "", "evidence": [ { "id": "O70490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70490" } ] }, { "ec_number": "6.2.1.25", "activity": "ATP + benzoate + CoA = AMP + benzoyl-CoA + diphosphate.", "evidence": [ { "id": "O70490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70490" } ] } ] }, { "uniprot_ac": "O95573", "gene_name": "ACSL3", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O95573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95573" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O95573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95573" } ] }, { "ec_number": "6.2.1.2", "activity": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O95573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95573" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O95573", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95573" } ] } ] }, { "uniprot_ac": "P0C7M7", "gene_name": "ACSM4", "activity": [ { "ec_number": "6.2.1.2", "activity": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P0C7M7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ] }, { "ec_number": "6.2.1.2", "activity": "", "evidence": [ { "id": "P0C7M7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C7M7" } ] } ] }, { "uniprot_ac": "P30624", "gene_name": "FAA1", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P30624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30624" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "P30624", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30624" } ] } ] }, { "uniprot_ac": "P39518", "gene_name": "FAA2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "P39518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39518" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "P39518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39518" } ] } ] }, { "uniprot_ac": "Q08AH1", "gene_name": "ACSM1", "activity": [ { "ec_number": "6.2.1.2", "activity": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "Q08AH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08AH1" } ] }, { "ec_number": "6.2.1.2", "activity": "", "evidence": [ { "id": "Q08AH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08AH1" } ] }, { "ec_number": "6.2.1.25", "activity": "ATP + benzoate + CoA = AMP + benzoyl-CoA + diphosphate.", "evidence": [ { "id": "Q08AH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08AH1" } ] } ] }, { "uniprot_ac": "Q08AH3", "gene_name": "ACSM2A", "activity": [ { "ec_number": "6.2.1.2", "activity": "a medium chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate.", 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