{ "uniprot_canonical_ac": "O00519-1", "uniprot_ac": "O00519", "uniprot_id": "FAAH1_HUMAN", "mass": { "chemical_mass": 63066.0, "monoisotopic_mass": 63066.0 }, "refseq": { "ac": "NP_001432", "name": "fatty-acid amide hydrolase 1", "summary": "This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, "gene_names": [ { "name": "FAAH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00519", "id": "O00519" }, { "name": "FAAH-1; FAAH1; PSAB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "id": "NP_001432" }, { "name": "FAAH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00519", "id": "O00519" }, { "name": "FAAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "id": "NP_001432" } ], "protein_names": [ { "name": "Fatty-acid amide hydrolase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00519" }, { "name": "3.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00519" }, { "name": "3.5.1.99", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00519" }, { "name": "Anandamide amidohydrolase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00519" }, { "name": "Fatty acid ester hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00519" }, { "name": "Oleamide hydrolase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00519" }, { "name": "fatty-acid amide hydrolase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "id": "NP_001432" }, { "name": "oleamide hydrolase 1; anandamide amidohydrolase 1; fatty acid ester hydrolase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "id": "NP_001432" } ], "function": [ { "annotation": "Association between the FAAH C385A variant (rs324420) and obesity-related traits: a systematic review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, { "database": "PubMed", "id": "38114812", "url": "https://glygen.org/publication/PubMed/38114812" } ] }, { "annotation": "Association of FAAH rs324420 (C385A) Polymorphism with High-Level Performance in Volleyball Players. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, { "database": "PubMed", "id": "37372343", "url": "https://glygen.org/publication/PubMed/37372343" } ] }, { "annotation": "Catalyzes the hydrolysis of endogenous amidated lipids like the sleep-inducing lipid oleamide ((9Z)-octadecenamide), the endocannabinoid anandamide (N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine), as well as other fatty amides, to their corresponding fatty acids, thereby regulating the signaling functions of these molecules (PubMed:9122178, PubMed:17015445, PubMed:19926788). Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates (PubMed:9122178, PubMed:17015445). It can also catalyze the hydrolysis of the endocannabinoid 2-arachidonoylglycerol (2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol) (PubMed:21049984). FAAH cooperates with PM20D1 in the hydrolysis of amino acid-conjugated fatty acids such as N-fatty acyl glycine and N-fatty acyl-L-serine, thereby acting as a physiological regulator of specific subsets of intracellular, but not of extracellular, N-fatty acyl amino acids (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519#function" }, { "database": "UniProtKB", "id": "O08914", "url": "https://www.uniprot.org/uniprot/O08914#function" }, { "database": "PubMed", "id": "21049984", "url": "https://glygen.org/publication/PubMed/21049984" }, { "database": "PubMed", "id": "19926788", "url": "https://glygen.org/publication/PubMed/19926788" }, { "database": "PubMed", "id": "17015445", "url": "https://glygen.org/publication/PubMed/17015445" }, { "database": "PubMed", "id": "9122178", "url": "https://glygen.org/publication/PubMed/9122178" } ] }, { "annotation": "FAAH Pro129Thr Variant Is Associated with Increased Cholesterol Levels in Normal-Weight Metabolically Unhealthy Subjects.", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, { "database": "PubMed", "id": "37433211", "url": "https://glygen.org/publication/PubMed/37433211" } ] }, { "annotation": "Functional Variation in the FAAH Gene Is Directly Associated with Subjective Well-Being and Indirectly Associated with Problematic Alcohol Use. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, { "database": "PubMed", "id": "37761966", "url": "https://glygen.org/publication/PubMed/37761966" } ] }, { "annotation": "Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" }, { "database": "PubMed", "id": "37253733", "url": "https://glygen.org/publication/PubMed/37253733" } ] }, { "annotation": "This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ] } ], "disease": [ { "disease_id": "MONDO:0011685", "recommended_name": { "id": "MONDO:0011685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011685", "name": "polysubstance abuse, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0011685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011685", "name": "polysubstance abuse, susceptibility to", "description": "" }, { "id": "MONDO:0011685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011685", "name": "PSAB", "description": "" }, { "id": "MONDO:0011685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011685", "name": "drug addiction, susceptibility to", "description": "" } ], "evidence": [ { "id": "606581", "database": "MIM", "url": "https://www.omim.org/entry/606581" } ] } ], "snv": [ { "evidence": [ { "id": "O00519", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00519" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 440, "end_pos": 440, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "46411614", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S440", "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": "" } ] }, { "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" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "68.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "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, 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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "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": "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 of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "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": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "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": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00519" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "common_name": "Human" } ], "gene": [ { "name": "FAAH", "url": "https://www.uniprot.org/uniprot/O00519", "locus": { "chromosome": "1", "start_pos": 46413848, "end_pos": 46394317, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000117480", "url": "https://www.ensembl.org/id/ENSG00000117480" } ] } } ], "crossref": [ { "id": "ENSG00000117480", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117480", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00519", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00519", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.5.1.4", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.5.1.4&UniProtAcc=O00519", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "3.5.1.99", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.5.1.99&UniProtAcc=O00519", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "CHEMBL2243", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2243", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "FAAH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FAAH", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2166", "url": "https://www.ncbi.nlm.nih.gov/gene/2166", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "3553", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3553", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00519", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00519*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR020556", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020556", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023631", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023631", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036928", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036928", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2166", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2166", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602935", "url": "http://www.omim.org/entry/602935", "database": "MIM", "categories": [ "Other" ] }, { "id": "606581", "url": "http://www.omim.org/entry/606581", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00519", "url": "https://www.nextprot.org/entry/NX_O00519", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00519", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00519", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GMQPWKY", "url": "https://omabrowser.org/oma/group/GMQPWKY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "731186at2759", "url": "http://www.orthodb.org/?query=731186at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45847", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45847", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45847:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45847:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01425", "url": "http://pfam.xfam.org/family/PF01425", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00519", "url": "https://pharos.nih.gov/targets/O00519", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00519", "url": "http://purl.obolibrary.org/obo/PR_O00519", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "26132", "url": "https://www.rhea-db.org/rhea/26132", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "26136", "url": "https://www.rhea-db.org/rhea/26136", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "26506", "url": "https://www.rhea-db.org/rhea/26506", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "35563", "url": "https://www.rhea-db.org/rhea/35563", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "45060", "url": "https://www.rhea-db.org/rhea/45060", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "45064", "url": "https://www.rhea-db.org/rhea/45064", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "51316", "url": "https://www.rhea-db.org/rhea/51316", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62976", "url": "https://www.rhea-db.org/rhea/62976", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62984", "url": "https://www.rhea-db.org/rhea/62984", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62992", "url": "https://www.rhea-db.org/rhea/62992", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "62996", "url": "https://www.rhea-db.org/rhea/62996", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63000", "url": "https://www.rhea-db.org/rhea/63000", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63004", "url": "https://www.rhea-db.org/rhea/63004", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63008", "url": "https://www.rhea-db.org/rhea/63008", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63016", "url": "https://www.rhea-db.org/rhea/63016", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63020", "url": "https://www.rhea-db.org/rhea/63020", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63028", "url": "https://www.rhea-db.org/rhea/63028", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63052", "url": "https://www.rhea-db.org/rhea/63052", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63120", "url": "https://www.rhea-db.org/rhea/63120", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63124", "url": "https://www.rhea-db.org/rhea/63124", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63128", "url": "https://www.rhea-db.org/rhea/63128", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63140", "url": "https://www.rhea-db.org/rhea/63140", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63144", "url": "https://www.rhea-db.org/rhea/63144", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63148", "url": "https://www.rhea-db.org/rhea/63148", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63156", "url": "https://www.rhea-db.org/rhea/63156", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63160", "url": "https://www.rhea-db.org/rhea/63160", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63164", "url": "https://www.rhea-db.org/rhea/63164", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "64108", "url": "https://www.rhea-db.org/rhea/64108", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "64116", "url": "https://www.rhea-db.org/rhea/64116", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A087WYA0", "url": "https://www.uniprot.org/uniprot/A0A087WYA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WYA0-1", "url": "https://www.uniprot.org/uniprot/A0A087WYA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00519-1", "url": "https://www.uniprot.org/uniprot/O00519-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTYVGKAWEVNKGTNCVTSYLADCETQLSQAPRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPLFGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCEDMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPCLGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRATGAVSYTMLYNCLDFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS", "length": 579, "header": "sp|O00519-1|FAAH1_HUMAN Isoform 1 of Fatty-acid amide hydrolase 1 OS=Homo sapiens OX=9606 GN=FAAH PE=1 SV=2 CANONICAL=O00519-1" }, "isoforms": [ { "isoform_ac": "A0A087WYA0-1", "url": "", "sequence": { "sequence": "XGGSIRFPSSFCGICGLKPTGNRLRSTPALSPCVWGTMRLTTIPCPPRP", "length": 49, "header": "tr|A0A087WYA0-1|FAAH1_HUMAN Computationally mapped isoform of Fatty-acid amide hydrolase 1 OS=Homo sapiens OX=9606 GN=FAAH PE=1 SV=1 CANONICAL=O00519-1" }, "locus": { "chromosome": "1", "start_pos": 46408533, "end_pos": 46405723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484697.5", "url": "https://www.ensembl.org/id/ENST00000484697.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000481641.1", "url": "https://www.ensembl.org/id/ENSP00000481641.1" } ] } }, { "isoform_ac": "O00519-1", "url": "", "sequence": { "sequence": "MVQYELWAALPGASGVALACCFVAAAVALRWSGRRTARGAVVRARQRQRAGLENMDRAAQRFRLQNPDLDSEALLALPLPQLVQKLHSRELAPEAVLFTYVGKAWEVNKGTNCVTSYLADCETQLSQAPRQGLLYGVPVSLKECFTYKGQDSTLGLSLNEGVPAECDSVVVHVLKLQGAVPFVHTNVPQSMFSYDCSNPLFGQTVNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSSFCGICGLKPTGNRLSKSGLKGCVYGQEAVRLSVGPMARDVESLALCLRALLCEDMFRLDPTVPPLPFREEVYTSSQPLRVGYYETDNYTMPSPAMRRAVLETKQSLEAAGHTLVPFLPSNIPHALETLSTGGLFSDGGHTFLQNFKGDFVDPCLGDLVSILKLPQWLKGLLAFLVKPLLPRLSAFLSNMKSRSAGKLWELQHEIEVYRKTVIAQWRALDLDVVLTPMLAPALDLNAPGRATGAVSYTMLYNCLDFPAGVVPVTTVTAEDEAQMEHYRGYFGDIWDKMLQKGMKKSVGLPVAVQCVALPWQEELCLRFMREVERLMTPEKQSS", "length": 579, "header": "sp|O00519-1|FAAH1_HUMAN Isoform 1 of Fatty-acid amide hydrolase 1 OS=Homo sapiens OX=9606 GN=FAAH PE=1 SV=2 CANONICAL=O00519-1" }, "locus": { "chromosome": "1", "start_pos": 46413572, "end_pos": 46394349, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000243167.9", "url": "https://www.ensembl.org/id/ENST00000243167.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000243167.8", "url": "https://www.ensembl.org/id/ENSP00000243167.8" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00519", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00519" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 241, "end_pos": 241, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" } ], "site_lbl": "Ser241" }, { "start_pos": 329, "end_pos": 329, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O00519", "url": "http://phospho.elm.eu.org/byAccession/O00519.html" } ], "site_lbl": "Tyr329" }, { "start_pos": 335, "end_pos": 335, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O00519", "url": "http://phospho.elm.eu.org/byAccession/O00519.html" } ], "site_lbl": "Tyr335" }, { "start_pos": 99, "end_pos": 99, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Thr99" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A missense mutation in human fatty acid amide hydrolase associated with problem drug use.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Sipe JC, Chiang K, Gerber AL, Beutler E, Cravatt BF", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "12060782", "url": "https://glygen.org/publication/PubMed/12060782" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Reduced cellular expression and activity of the P129T mutant of human fatty acid amide hydrolase: evidence for a link between defects in the endocannabinoid system and problem drug use.", "journal": "Human molecular genetics", "date": "2004", "authors": "Chiang KP, Gerber AL, Sipe JC, Cravatt BF", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "15254019", "url": "https://glygen.org/publication/PubMed/15254019" } ] }, { "title": "Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Turkish AR, Henneberry AL, Cromley D, Padamsee M, Oelkers P, Bazzi H, Christiano AM, Billheimer JT, Sturley SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753" } ], "reference": [ { "type": "PubMed", "id": "15671038", "url": "https://glygen.org/publication/PubMed/15671038" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction.", "journal": "Human genetics", "date": "2006", "authors": "Flanagan JM, Gerber AL, Cadet JL, Beutler E, Sipe JC", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "16972078", "url": "https://glygen.org/publication/PubMed/16972078" } ] }, { "title": "A second fatty acid amide hydrolase with variable distribution among placental mammals.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Wei BQ, Mikkelsen TS, McKinney MK, Lander ES, Cravatt BF", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" }, { "database": "Reactome", "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753" } ], "reference": [ { "type": "PubMed", "id": "17015445", "url": "https://glygen.org/publication/PubMed/17015445" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Lipid droplets are novel sites of N-acylethanolamine inactivation by fatty acid amide hydrolase-2.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Kaczocha M, Glaser ST, Chae J, Brown DA, Deutsch DG", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" }, { "database": "Reactome", "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753" } ], "reference": [ { "type": "PubMed", "id": "19926788", "url": "https://glygen.org/publication/PubMed/19926788" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Inactivation of lipid glyceryl ester metabolism in human THP1 monocytes/macrophages by activated organophosphorus insecticides: role of carboxylesterases 1 and 2.", "journal": "Chemical research in toxicology", "date": "2010-12-20", "authors": "Xie Shuqi, Borazjani Abdolsamad, Hatfield M Jason, Edwards Carol C, Potter Philip M, Ross Matthew K", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "21049984", "url": "https://glygen.org/publication/PubMed/21049984" } ] }, { "title": "Functional characterization of mutations in inherited human cPLA(2) deficiency.", "journal": "Biochemistry", "date": "2011", "authors": "Reed KA, Tucker DE, Aloulou A, Adler D, Ghomashchi F, Gelb MH, Leslie CC, Oates JA, Boutaud O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753" } ], "reference": [ { "type": "PubMed", "id": "21247147", "url": "https://glygen.org/publication/PubMed/21247147" } ] }, { "title": "Secreted phospholipase A2 revisited.", "journal": "Journal of biochemistry", "date": "2011", "authors": "Murakami M, Taketomi Y, Sato H, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2142753", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753" } ], "reference": [ { "type": "PubMed", "id": "21746768", "url": "https://glygen.org/publication/PubMed/21746768" } ] }, { "title": "Association of a functional FAAH polymorphism with methamphetamine-induced symptoms and dependence in a Malaysian population.", "journal": "Pharmacogenomics", "date": "2013", "authors": "Sim MS, Hatim A, Reynolds GP, Mohamed Z", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "23556448", "url": "https://glygen.org/publication/PubMed/23556448" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" }, { "database": "iPTMnet", "id": "O00519", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00519" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00519", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00519" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancer.", "journal": "Nature communications", "date": "2023-05-30", "authors": "Tundidor Isabel, Seijo-Vila Marta, Blasco-Benito Sandra, Rubert-Hern\u00e1ndez Mar\u00eda, Ad\u00e1mez Sandra, Andradas Clara, Manzano Sara, \u00c1lvarez-L\u00f3pez Isabel, Sarasqueta Cristina, Villa-Morales Mar\u00eda, Gonz\u00e1lez-Lois Carmen, Ram\u00edrez-Medina Esther, Almoguera Bel\u00e9n, S\u00e1nchez-L\u00f3pez Antonio J, Bindila Laura, Hamann Sigrid, Arnold Norbert, R\u00f6cken Christoph, Heras-Murillo Ignacio, Sancho David, Moreno-Bueno Gema, Caffarel Mar\u00eda M, Guzm\u00e1n Manuel, S\u00e1nchez Cristina, P\u00e9rez-G\u00f3mez Eduardo", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ], "reference": [ { "type": "PubMed", "id": "37253733", "url": "https://glygen.org/publication/PubMed/37253733" } ] }, { "title": "Association of FAAH rs324420 (C385A) Polymorphism with High-Level Performance in Volleyball Players.", "journal": "Genes", "date": "2023-05-26", "authors": "Silva Hugo-Henrique, Tavares Val\u00e9ria, Silva Maria-Raquel G, Neto Beatriz Vieira, Cerqueira F\u00e1tima, Medeiros Rui", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ], "reference": [ { "type": "PubMed", "id": "37372343", "url": "https://glygen.org/publication/PubMed/37372343" } ] }, { "title": "FAAH Pro129Thr Variant Is Associated with Increased Cholesterol Levels in Normal-Weight Metabolically Unhealthy Subjects.", "journal": "Metabolic syndrome and related disorders", "date": "2023-07-11", "authors": "Sierra-Ruelas Erika, Torres-Castillo Nathaly, Vizmanos Barbara, Campos-P\u00e9rez Wendy, Lopez-Cortes Oscar David, Di Marzo Vincenzo, Mart\u00ednez-L\u00f3pez Erika", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ], "reference": [ { "type": "PubMed", "id": "37433211", "url": "https://glygen.org/publication/PubMed/37433211" } ] }, { "title": "Functional Variation in the FAAH Gene Is Directly Associated with Subjective Well-Being and Indirectly Associated with Problematic Alcohol Use.", "journal": "Genes", "date": "2023-09-21", "authors": "Bornscheuer Lisa, Lundin Andreas, Forsell Yvonne, Lavebratt Catharina, Melas Philippe A", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ], "reference": [ { "type": "PubMed", "id": "37761966", "url": "https://glygen.org/publication/PubMed/37761966" } ] }, { "title": "Association between the FAAH C385A variant (rs324420) and obesity-related traits: a systematic review.", "journal": "International journal of obesity (2005)", "date": "2023-12-19", "authors": "Lopez-Cortes Oscar David, Trujillo-S\u00e1nchez Francisco, Sierra-Ruelas Erika, Martinez-Lopez Erika, Di Marzo Vincenzo, Vizmanos Barbara", "evidence": [ { "database": "RefSeq", "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432" } ], "reference": [ { "type": "PubMed", "id": "38114812", "url": "https://glygen.org/publication/PubMed/38114812" } ] }, { "title": "Molecular characterization of human and mouse fatty acid amide hydrolases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Giang DK, Cravatt BF", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "9122178", "url": "https://glygen.org/publication/PubMed/9122178" } ] }, { "title": "Conserved chromosomal location and genomic structure of human and mouse fatty-acid amide hydrolase genes and evaluation of clasper as a candidate neurological mutation.", "journal": "Genomics", "date": "1998", "authors": "Wan M, Cravatt BF, Ring HZ, Zhang X, Francke U", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "reference": [ { "type": "PubMed", "id": "9878243", "url": "https://glygen.org/publication/PubMed/9878243" } ] } ], "pathway": [ { "id": "hsa:2166", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2166", "resource": "KEGG Pathway" }, { "id": "R-HSA-2142753", "name": "Arachidonic acid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2142753", "resource": "Reactome", "description": "Arachidonic acid metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "O08914-1", "protein_name": "Fatty-acid amide hydrolase 1", "gene_name": "Faah", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVLSEVWTALSGLSGVCLACSLLSAAVVLRWTRSQTARGAVTRARQKQRAGLETMDKAVQRFRLQNPDLDSEALLALPLLQLVQKLQSGELSPEAVLFTYLGKAWEVNKGTNCVTSYLTDCETQLSQAPRQGLLYGVPVSLKECFSYKGHASTLGLSLNEGVTSESDCVVVQVLKLQGAVPFVHTNVPQSMLSYDCSNPLFGQTMNPWKPSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSAFCGICGLKPTGNRLSKSGLKSCVYGQTAVQLSVGPMARDVDSLALCMKALLCEDLFRLDSTIPPLPFREEIYRSSRPLRVGYYETDNYTMPTPAMRRAVMETKQSLEAAGHTLVPFLPNNIPYALEVLSAGGLFSDGGCSFLQNFKGDFVDPCLGDLVLVLKLPRWFKKLLSFLLKPLFPRLAAFLNSMCPRSAEKLWELQHEIEMYRQSVIAQWKAMNLDVVLTPMLGPALDLNTPGRATGAISYTVLYNCLDFPAGVVPVTTVTAEDDAQMEHYKGYFGDMWDNILKKGMKKGIGLPVAVQCVALPWQEELCLRFMREVERLMTPEKRPS", "length": 579 }, "evidence": [ { "id": "45933719", "url": "http://www.informatics.jax.org/homology/45933719", "database": "MGI" }, { "id": "O00519", "url": "https://omabrowser.org/oma/group/O00519/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P97612-1", "protein_name": "Fatty-acid amide hydrolase 1", "gene_name": "Faah", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVLSEVWTTLSGVSGVCLACSLLSAAVVLRWTGRQKARGAATRARQKQRASLETMDKAVQRFRLQNPDLDSEALLTLPLLQLVQKLQSGELSPEAVFFTYLGKAWEVNKGTNCVTSYLTDCETQLSQAPRQGLLYGVPVSLKECFSYKGHDSTLGLSLNEGMPSESDCVVVQVLKLQGAVPFVHTNVPQSMLSFDCSNPLFGQTMNPWKSSKSPGGSSGGEGALIGSGGSPLGLGTDIGGSIRFPSAFCGICGLKPTGNRLSKSGLKGCVYGQTAVQLSLGPMARDVESLALCLKALLCEHLFTLDPTVPPLPFREEVYRSSRPLRVGYYETDNYTMPSPAMRRALIETKQRLEAAGHTLIPFLPNNIPYALEVLSAGGLFSDGGRSFLQNFKGDFVDPCLGDLILILRLPSWFKRLLSLLLKPLFPRLAAFLNSMRPRSAEKLWKLQHEIEMYRQSVIAQWKAMNLDVLLTPMLGPALDLNTPGRATGAISYTVLYNCLDFPAGVVPVTTVTAEDDAQMELYKGYFGDIWDIILKKAMKNSVGLPVAVQCVALPWQEELCLRFMREVEQLMTPQKQPS", "length": 579 }, "evidence": [ { "id": "O00519", "url": "https://omabrowser.org/oma/group/O00519/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "fatty acid amide hydrolase activity", "id": "GO:0017064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017064", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "acylglycerol lipase activity", "id": "GO:0047372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047372", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "amidase activity", "id": "GO:0004040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004040", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "positive regulation of vasoconstriction", "id": "GO:0045907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045907", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "monoacylglycerol catabolic process", "id": "GO:0052651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052651", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" }, { "name": "arachidonic acid metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "O00519", "url": "https://www.uniprot.org/uniprot/O00519" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 334, "end_pos": 336, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "26132", "name": "", "equation": "2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5XI64-1", "P97612-1", "Q6AYT7-1", "Q6MG55-1", "Q8R431-1", "P15304-1", "P07687-1", "Q8N2K0-1", "P08910-1", "Q9BV23-1", "O95870-1", "O00519-1", "Q99685-1", "O00748-1", "P23141-1", "P07099-1", "Q05469-1", "Q8IY17-4", "Q8R2Y0-1", "Q9Z1Q2-1", "Q99LR1-1", "Q9QXM0-1", "O08914-1", "O35678-1", "P54310-1", "Q3TRM4-1", "Q8VCC2-1", "Q9D379-1" ], "evidence": [ { "id": "26132", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/26132" } ] }, { "id": "26136", "name": "", "equation": "H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + ethanolamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "Q6GMR7-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "26136", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/26136" } ] }, { "id": "26506", "name": "", "equation": "(9Z)-octadecenamide + H2O = (9Z)-octadecenoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "Q6GMR7-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "26506", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/26506" } ] }, { "id": "35563", "name": "", "equation": "H2O + N-(9Z-hexadecenoyl) ethanolamine = (9Z)-hexadecenoate + ethanolamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "35563", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/35563" } ] }, { "id": "45060", "name": "", "equation": "H2O + N-(9Z-octadecenoyl) ethanolamine = (9Z)-octadecenoate + ethanolamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "Q6GMR7-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "45060", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45060" } ] }, { "id": "45064", "name": "", "equation": "H2O + N-hexadecanoylethanolamine = ethanolamine + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5KTC7-1", "Q02083-1", "Q6GMR7-1", "O00519-1", "Q9D7V9-1" ], "evidence": [ { "id": "45064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45064" } ] }, { "id": "51316", "name": "", "equation": "(9Z)-octadecenoate + glycine = H2O + N-(9Z-octadecenoyl)glycine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "Q6GTS8-1", "O08914-1", "Q8C165-1" ], "evidence": [ { "id": "51316", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/51316" } ] }, { "id": "62976", "name": "", "equation": "(9Z,12Z,15Z)-octadecatrienamide + H2O = (9Z,12Z,15Z)-octadecatrienoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "62976", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62976" } ] }, { "id": "62984", "name": "", "equation": "H2O + hexadecanamide = hexadecanoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00519-1" ], "evidence": [ { "id": "62984", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62984" } ] }, { "id": "62992", "name": "", "equation": "H2O + tetradecamide = NH4(+) + tetradecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "62992", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62992" } ] }, { "id": "62996", "name": "", "equation": "(8Z,11Z,14Z)-eicosatrienamide + H2O = (8Z,11Z,14Z)-eicosatrienoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "62996", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/62996" } ] }, { "id": "63000", "name": "", "equation": "(11Z,14Z,17Z)-eicosatrienamide + H2O = (11Z,14Z,17Z)-eicosatrienoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63000", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63000" } ] }, { "id": "63004", "name": "", "equation": "(11Z,14Z)-eicosadienamide + H2O = (11Z,14Z)-eicosadienoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63004", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63004" } ] }, { "id": "63008", "name": "", "equation": "(6Z)-octadecenamide + H2O = (6Z)-octadecenoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63008", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63008" } ] }, { "id": "63016", "name": "", "equation": "(5Z,8Z,11Z,14Z)-eicosatetraenamide + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63016", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63016" } ] }, { "id": "63020", "name": "", "equation": "(9Z,12Z)-octadecadienamide + H2O = (9Z,12Z)-octadecadienoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63020", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63020" } ] }, { "id": "63028", "name": "", "equation": "(15Z)-tetracosenamide + H2O = (15Z)-tetracosenoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63028", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63028" } ] }, { "id": "63052", "name": "", "equation": "1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + methanol", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63052", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63052" } ] }, { "id": "63120", "name": "", "equation": "(11Z)-eicosenamide + H2O = (11Z)-eicosenoate + NH4(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63120", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63120" } ] }, { "id": "63124", "name": "", "equation": "H2O + N-octadecanoyl ethanolamine = ethanolamine + octadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63124", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63124" } ] }, { "id": "63128", "name": "", "equation": "H2O + N-docosanoyl-ethanolamine = docosanoate + ethanolamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63128", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63128" } ] }, { "id": "63140", "name": "", "equation": "H2O + N-tetracosanoyl-taurine = taurine + tetracosanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63140", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63140" } ] }, { "id": "63144", "name": "", "equation": "H2O + N-(15Z-tetracosenoyl)-ethanolamine = (15Z)-tetracosenoate + ethanolamine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63144", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63144" } ] }, { "id": "63148", "name": "", "equation": "H2O + N-(9Z-octadecenoyl)-taurine = (9Z)-octadecenoate + taurine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63148", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63148" } ] }, { "id": "63156", "name": "", "equation": "H2O + N-docosanoyl-taurine = docosanoate + taurine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63156", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63156" } ] }, { "id": "63160", "name": "", "equation": "H2O + N-(15Z-tetracosenoyl)-taurine = (15Z)-tetracosenoate + taurine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63160", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63160" } ] }, { "id": "63164", "name": "", "equation": "H2O + N-tricosanoyl-taurine = taurine + tricosanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "O08914-1" ], "evidence": [ { "id": "63164", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63164" } ] }, { "id": "64108", "name": "", "equation": "H2O + N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-glycine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "Q6GTS8-1", "O08914-1", "Q8C165-1" ], "evidence": [ { "id": "64108", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/64108" } ] }, { "id": "64116", "name": "", "equation": "H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-L-serine = (5Z,8Z,11Z,14Z)-eicosatetraenoate + L-serine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97612-1", "O00519-1", "Q6GTS8-1", "O08914-1", "Q8C165-1" ], "evidence": [ { "id": "64116", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/64116" } ] }, { "id": "R-HSA-5693742", "name": "FAAH hydrolyses AEA to AA and ETA", "equation": "", "summary": "Fatty acid amides are a class of lipid transmitters that include the endogenous cannabinoid anandamide (AEA) and the sleep-inducing chemical oleamide. The magnitude and duration of their signalling are controlled by enzymatic hydrolysis mediated by fatty-acid amide hydrolases 1 and 2 (FAAH, H2). Hydrolysis of AEA is described here (Wei et al. 2006). FAAH is localised to the ER membrane whereas FAAH2 is localised to lipid droplets (Kaczocha et al. 2010).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-5693754" ], "output_participant_list": [ "R-ALL-29768" ], "enzyme_list": [ "O00519-1" ], "evidence": [ { "id": "R-HSA-5693742", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693742" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-29768", "participant_name": "AA [cytosol]", "crossref": [ { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" }, { "id": "000004474696", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-5693754", "participant_name": "AEA [cytosol]", "crossref": [ { "id": "2364", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "2700", "database": "ChEBI", "url": "" }, { "id": "HMDB0004080", "database": "HMDB Metabolite", "url": "" }, { "id": "000003809850", "database": "ZINC", "url": "" }, { "id": "2700", "database": "ChEBI", "url": "" }, { "id": "000003809850", "database": "ZINC", "url": "" }, { "id": "2364", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0004080", "database": "HMDB Metabolite", "url": "" }, { "id": "2700", "database": "ChEBI", "url": "" }, { "id": "000003809850", "database": "ZINC", "url": "" }, { "id": "2364", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0004080", "database": "HMDB Metabolite", "url": "" }, { "id": "2700", "database": "ChEBI", "url": "" }, { "id": "2364", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0004080", "database": "HMDB Metabolite", "url": "" }, { "id": "000003809850", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00519", "gene_name": "FAAH", "activity": [ { "ec_number": "3.5.1.99", "activity": "(9Z)-octadecenamide + H2O = (9Z)-octadecenoate + NH4(+).", "evidence": [ { "id": "O00519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00519" } ] }, { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "O00519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00519" } ] }, { "ec_number": "3.5.1.99", "activity": "", "evidence": [ { "id": "O00519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00519" } ] } ] }, { "uniprot_ac": "O00748", "gene_name": "CES2", "activity": [ { "ec_number": "3.1.1.1", "activity": "a carboxylic ester + H2O = a carboxylate + an alcohol + H(+).", "evidence": [ { "id": "O00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00748" } ] }, { "ec_number": "3.1.1.56", "activity": "4-methylumbelliferyl acetate + H2O = 4-methylumbelliferone + acetate + H(+).", "evidence": [ { "id": "O00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00748" } ] }, { "ec_number": "3.1.1.84", "activity": "cocaine + H2O = benzoate + ecgonine methyl ester + H(+).", "evidence": [ { "id": "O00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00748" } ] }, { "ec_number": "3.1.1.84", "activity": "", "evidence": [ { "id": "O00748", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00748" } ] } ] }, { "uniprot_ac": "O08914", "gene_name": "Faah", "activity": [ { "ec_number": "3.5.1.99", "activity": "(9Z)-octadecenamide + H2O = (9Z)-octadecenoate + NH4(+).", "evidence": [ { "id": "O08914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08914" } ] }, { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "O08914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08914" } ] }, { "ec_number": "3.5.1.99", "activity": "", "evidence": [ { "id": "O08914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O08914" } ] } ] }, { "uniprot_ac": "O35678", "gene_name": "Mgll", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "O35678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35678" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "O35678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35678" } ] } ] }, { "uniprot_ac": "O95870", "gene_name": "ABHD16A", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "O95870", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95870" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "O95870", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95870" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "O95870", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95870" } ] } ] }, { "uniprot_ac": "P07099", "gene_name": "EPHX1", "activity": [ { "ec_number": "3.3.2.9", "activity": "1-(4-methoxyphenyl)-N-methyl-N-[(3-methyloxetan-3-yl)methyl]methanamine + H2O = 2-{[(4-methoxybenzyl)(methyl)amino]methyl}-2-methylpropane-1,3-diol.", "evidence": [ { "id": "P07099", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07099" } ] }, { "ec_number": "3.3.2.9", "activity": "", "evidence": [ { "id": "P07099", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07099" } ] } ] }, { "uniprot_ac": "P07687", "gene_name": "Ephx1", "activity": [ { "ec_number": "3.3.2.9", "activity": "1-(4-methoxyphenyl)-N-methyl-N-[(3-methyloxetan-3-yl)methyl]methanamine + H2O = 2-{[(4-methoxybenzyl)(methyl)amino]methyl}-2-methylpropane-1,3-diol.", "evidence": [ { "id": "P07687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07687" } ] }, { "ec_number": "3.3.2.9", "activity": "", "evidence": [ { "id": "P07687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07687" } ] } ] }, { "uniprot_ac": "P08910", "gene_name": "ABHD2", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P08910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08910" } ] } ] }, { "uniprot_ac": "P15304", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P15304", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15304" } ] } ] }, { "uniprot_ac": "P23141", "gene_name": "CES1", "activity": [ { "ec_number": "3.1.1.13", "activity": "a cholesterol ester + H2O = a fatty acid + cholesterol + H(+).", "evidence": [ { "id": "P23141", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23141" } ] }, { "ec_number": "3.1.1.1", "activity": "a carboxylic ester + H2O = a carboxylate + an alcohol + H(+).", "evidence": [ { "id": "P23141", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23141" } ] }, { "ec_number": "3.1.1.56", "activity": "4-methylumbelliferyl acetate + H2O = 4-methylumbelliferone + acetate + H(+).", "evidence": [ { "id": "P23141", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23141" } ] } ] }, { "uniprot_ac": "P54310", "gene_name": "Lipe", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "P54310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54310" } ] } ] }, { "uniprot_ac": "P97612", "gene_name": "Faah", "activity": [ { "ec_number": "3.5.1.99", "activity": "(9Z)-octadecenamide + H2O = (9Z)-octadecenoate + NH4(+).", "evidence": [ { "id": "P97612", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97612" } ] }, { "ec_number": "3.5.1.99", "activity": "", "evidence": [ { "id": "P97612", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97612" } ] }, { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P97612", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97612" } ] } ] }, { "uniprot_ac": "Q02083", "gene_name": "NAAA", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q02083", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02083" } ] }, { "ec_number": "3.5.1.60", "activity": "H2O + N-(long-chain fatty acyl)ethanolamine = a long-chain fatty acid + ethanolamine.", "evidence": [ { "id": "Q02083", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02083" } ] }, { "ec_number": "3.5.1.60", "activity": "", "evidence": [ { "id": "Q02083", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02083" } ] } ] }, { "uniprot_ac": "Q05469", "gene_name": "LIPE", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] }, { "ec_number": "3.1.1.79", "activity": "", "evidence": [ { "id": "Q05469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q05469" } ] } ] }, { "uniprot_ac": "Q3TRM4", "gene_name": "Pnpla6", "activity": [ { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q3TRM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TRM4" } ] } ] }, { "uniprot_ac": "Q5KTC7", "gene_name": "Naaa", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q5KTC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5KTC7" } ] }, { "ec_number": "3.5.1.60", "activity": "H2O + N-(long-chain fatty acyl)ethanolamine = a long-chain fatty acid + ethanolamine.", "evidence": [ { "id": "Q5KTC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5KTC7" } ] }, { "ec_number": "3.5.1.60", "activity": "", "evidence": [ { "id": "Q5KTC7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5KTC7" } ] } ] }, { "uniprot_ac": "Q5XI64", "gene_name": "Abhd6", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q5XI64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XI64" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q5XI64", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5XI64" } ] } ] }, { "uniprot_ac": "Q6AYT7", "gene_name": "Abhd12", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q6AYT7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYT7" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q6AYT7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYT7" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q6AYT7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6AYT7" } ] } ] }, { "uniprot_ac": "Q6GMR7", "gene_name": "FAAH2", "activity": [ { "ec_number": "3.5.1.99", "activity": "(9Z)-octadecenamide + H2O = (9Z)-octadecenoate + NH4(+).", "evidence": [ { "id": "Q6GMR7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GMR7" } ] }, { "ec_number": "3.5.1.99", "activity": "", "evidence": [ { "id": "Q6GMR7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GMR7" } ] } ] }, { "uniprot_ac": "Q6GTS8", "gene_name": "PM20D1", "activity": [ { "ec_number": "3.5.1.114", "activity": "an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S-substituted L-cysteine.", "evidence": [ { "id": "Q6GTS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GTS8" } ] }, { "ec_number": "3.5.1.14", "activity": "an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S-substituted L-cysteine.", "evidence": [ { "id": "Q6GTS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GTS8" } ] }, { "ec_number": "3.5.1.114", "activity": "", "evidence": [ { "id": "Q6GTS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GTS8" } ] }, { "ec_number": "3.5.1.14", "activity": "", "evidence": [ { "id": "Q6GTS8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6GTS8" } ] } ] }, { "uniprot_ac": "Q6MG55", "gene_name": "Abhd16a", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q6MG55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MG55" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q6MG55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MG55" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q6MG55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6MG55" } ] } ] }, { "uniprot_ac": "Q8C165", "gene_name": "Pm20d1", "activity": [ { "ec_number": "3.5.1.14", "activity": "an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S-substituted L-cysteine.", "evidence": [ { "id": "Q8C165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C165" } ] }, { "ec_number": "3.5.1.14", "activity": "", "evidence": [ { "id": "Q8C165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C165" } ] }, { "ec_number": "3.5.1.114", "activity": "an N-acetyl-L-cysteine-S-conjugate + H2O = acetate + an S-substituted L-cysteine.", "evidence": [ { "id": "Q8C165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C165" } ] }, { "ec_number": "3.5.1.114", "activity": "", "evidence": [ { "id": "Q8C165", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C165" } ] } ] }, { "uniprot_ac": "Q8IY17", "gene_name": "PNPLA6", "activity": [ { "ec_number": "3.1.1.5", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine.", "evidence": [ { "id": "Q8IY17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IY17" } ] }, { "ec_number": "3.1.1.5", "activity": "", "evidence": [ { "id": "Q8IY17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IY17" } ] } ] }, { "uniprot_ac": "Q8N2K0", "gene_name": "ABHD12", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q8N2K0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2K0" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q8N2K0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2K0" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q8N2K0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N2K0" } ] } ] }, { "uniprot_ac": "Q8R2Y0", "gene_name": "Abhd6", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q8R2Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2Y0" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q8R2Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2Y0" } ] } ] }, { "uniprot_ac": "Q8R431", "gene_name": "Mgll", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q8R431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R431" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q8R431", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R431" } ] } ] }, { "uniprot_ac": "Q8VCC2", "gene_name": "Ces1", "activity": [ { "ec_number": "3.1.1.13", "activity": "a cholesterol ester + H2O = a fatty acid + cholesterol + H(+).", "evidence": [ { "id": "Q8VCC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCC2" } ] }, { "ec_number": "3.1.1.1", "activity": "a carboxylic ester + H2O = a carboxylate + an alcohol + H(+).", "evidence": [ { "id": "Q8VCC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCC2" } ] }, { "ec_number": "3.1.1.1", "activity": "", "evidence": [ { "id": "Q8VCC2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCC2" } ] } ] }, { "uniprot_ac": "Q99685", "gene_name": "MGLL", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q99685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99685" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q99685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99685" } ] } ] }, { "uniprot_ac": "Q99LR1", "gene_name": "Abhd12", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q99LR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LR1" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q99LR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LR1" } ] }, { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "Q99LR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LR1" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q99LR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99LR1" } ] } ] }, { "uniprot_ac": "Q9BV23", "gene_name": "ABHD6", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q9BV23", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BV23" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q9BV23", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BV23" } ] } ] }, { "uniprot_ac": "Q9D379", "gene_name": "Ephx1", "activity": [ { "ec_number": "3.3.2.9", "activity": "1-(4-methoxyphenyl)-N-methyl-N-[(3-methyloxetan-3-yl)methyl]methanamine + H2O = 2-{[(4-methoxybenzyl)(methyl)amino]methyl}-2-methylpropane-1,3-diol.", "evidence": [ { "id": "Q9D379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D379" } ] }, { "ec_number": "3.3.2.9", "activity": "", "evidence": [ { "id": "Q9D379", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D379" } ] } ] }, { "uniprot_ac": "Q9D7V9", "gene_name": "Naaa", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q9D7V9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7V9" } ] }, { "ec_number": "3.5.1.60", "activity": "H2O + N-(long-chain fatty acyl)ethanolamine = a long-chain fatty acid + ethanolamine.", "evidence": [ { "id": "Q9D7V9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7V9" } ] }, { "ec_number": "3.5.1.60", "activity": "", "evidence": [ { "id": "Q9D7V9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7V9" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q9D7V9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9D7V9" } ] } ] }, { "uniprot_ac": "Q9QXM0", "gene_name": "Abhd2", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXM0" } ] }, { "ec_number": "3.1.1.79", "activity": "a monoacylglycerol + H2O = a fatty acid + glycerol + H(+).", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXM0" } ] }, { "ec_number": "3.1.1.6", "activity": "an acetyl ester + H2O = acetate + an aliphatic alcohol + H(+).", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXM0" } ] }, { "ec_number": "3.1.1.23", "activity": "", "evidence": [ { "id": "Q9QXM0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9QXM0" } ] } ] }, { "uniprot_ac": "Q9Z1Q2", "gene_name": "Abhd16a", "activity": [ { "ec_number": "3.1.1.23", "activity": "Hydrolyzes glycerol monoesters of long-chain fatty acids.", "evidence": [ { "id": "Q9Z1Q2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1Q2" } ] }, { "ec_number": "3.1.-.-", "activity": "", "evidence": [ { "id": "Q9Z1Q2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1Q2" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 440 ], "glycation_sites": [], "phosphorylation_sites": [ 99, 241, 329, 335 ], "sequon_annotation_sites": [ { "start_pos": 334, "end_pos": 336 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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" ] }, { "table_id": "glycosylation_reported", "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": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "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" ] }, { "table_id": "glycosylation_predicted", "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": "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }