{ "uniprot_canonical_ac": "P07327-1", "uniprot_ac": "P07327", "uniprot_id": "ADH1A_HUMAN", "mass": { "chemical_mass": 39859.0, "monoisotopic_mass": 39859.0 }, "refseq": { "ac": "NP_000658", "name": "alcohol dehydrogenase 1A", "summary": "This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, "gene_names": [ { "name": "ADH1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07327", "id": "P07327" }, { "name": "ADH1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658", "id": "NP_000658" }, { "name": "ADH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658", "id": "NP_000658" }, { "name": "ADH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07327", "id": "P07327" } ], "protein_names": [ { "name": "Alcohol dehydrogenase 1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07327" }, { "name": "1.1.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07327" }, { "name": "ADH, alpha subunit; alcohol dehydrogenase 1 (class I), alpha polypeptide; aldehyde reductase; alcohol dehydrogenase subunit alpha", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658", "id": "NP_000658" }, { "name": "Alcohol dehydrogenase subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07327" }, { "name": "alcohol dehydrogenase 1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658", "id": "NP_000658" } ], "function": [ { "annotation": "Alcohol dehydrogenase (PubMed:2738060). Oxidizes primary as well as secondary alcohols. Ethanol is a very poor substrate (PubMed:2738060).", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327#function" }, { "database": "PubMed", "id": "2738060", "url": "https://glygen.org/publication/PubMed/2738060" } ] }, { "annotation": "Contrary to consensus, oxidation of ethanol by human alcohol dehydrogenase (ADH) 1A is activated by ATP.", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, { "database": "PubMed", "id": "34742856", "url": "https://glygen.org/publication/PubMed/34742856" } ] }, { "annotation": "High ADH expression is associated with Prostate Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, { "database": "PubMed", "id": "28870918", "url": "https://glygen.org/publication/PubMed/28870918" } ] }, { "annotation": "The activity of total alcohol dehydrogenase (ADH) and class I isoenzymes in the sera of autoimmune hepatitis patients is increased and aldehyde dehydrogenase (ALDH) levels were unchanged.", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, { "database": "PubMed", "id": "29739065", "url": "https://glygen.org/publication/PubMed/29739065" } ] }, { "annotation": "This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" } ] }, { "annotation": "Variation of ADH1A was significantly associated with blood acetaldehyde concentrations, which may contribute to slow alcohol metabolism and result in increased blood acetaldehyde levels in Korean subjects.", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, { "database": "PubMed", "id": "31002879", "url": "https://glygen.org/publication/PubMed/31002879" } ] }, { "annotation": "We demonstrated for the first time that rs1154402C>G change in in intron 1 of ADH5 might create a silencer, repressing ADH1A transcription via long-range interaction with ADH1A promoter", "evidence": [ { "database": "RefSeq", "id": "NP_000658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000658" }, { "database": "PubMed", "id": "29248712", "url": "https://glygen.org/publication/PubMed/29248712" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P07327", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07327" } ], "glycoeffect": [], "start_pos": 38, "end_pos": 38, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "99287572", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R38", "disease": [ { "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": "" } ] } ], "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": "61.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "59.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "63.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "63.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "56.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "62.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "71.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000187758", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187758" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P07327", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07327" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAVGICGTDDHVVSGTMVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLAIPQCGKCRICKNPESNYCLKNDVSNPQGTLQDGTSRFTCRRKPIHHFLGISTFSQYTVVDENAVAKIDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAIMGCKAAGAARIIAVDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLLCCHEACGTSVIVGVPPDSQNLSMNPMLLLTGRTWKGAILGGFKSKECVPKLVADFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTILMF", "length": 375, "header": "sp|P07327-1|ADH1A_HUMAN Isoform 1 of Alcohol dehydrogenase 1A OS=Homo sapiens OX=9606 GN=ADH1A PE=1 SV=2 CANONICAL=P07327-1" }, "isoforms": [ { "isoform_ac": "P07327-1", "url": "", "sequence": { "sequence": "MSTAGKVIKCKAAVLWELKKPFSIEEVEVAPPKAHEVRIKMVAVGICGTDDHVVSGTMVTPLPVILGHEAAGIVESVGEGVTTVKPGDKVIPLAIPQCGKCRICKNPESNYCLKNDVSNPQGTLQDGTSRFTCRRKPIHHFLGISTFSQYTVVDENAVAKIDAASPLEKVCLIGCGFSTGYGSAVNVAKVTPGSTCAVFGLGGVGLSAIMGCKAAGAARIIAVDINKDKFAKAKELGATECINPQDYKKPIQEVLKEMTDGGVDFSFEVIGRLDTMMASLLCCHEACGTSVIVGVPPDSQNLSMNPMLLLTGRTWKGAILGGFKSKECVPKLVADFMAKKFSLDALITHVLPFEKINEGFDLLHSGKSIRTILMF", "length": 375, "header": "sp|P07327-1|ADH1A_HUMAN Isoform 1 of Alcohol dehydrogenase 1A OS=Homo sapiens OX=9606 GN=ADH1A PE=1 SV=2 CANONICAL=P07327-1" }, "locus": { "chromosome": "4", "start_pos": 99290914, "end_pos": 99276627, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000209668.3", "url": "https://www.ensembl.org/id/ENST00000209668.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000209668.2", "url": "https://www.ensembl.org/id/ENSP00000209668.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 207, "end_pos": 207, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07327" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser207" }, { "start_pos": 23, "end_pos": 23, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": 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encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism.", "journal": "American journal of human genetics", "date": "1999", "authors": "Chen CC, Lu RB, Chen YC, Wang MF, Chang YC, Li TK, Yin SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10441588", "url": "https://glygen.org/publication/PubMed/10441588" } ] }, { "title": "Human liver mitochondrial aldehyde dehydrogenase: three-dimensional structure and the restoration of solubility and activity of chimeric forms.", "journal": "Protein science : a publication of the Protein Society", "date": "1999", "authors": "Ni L, Zhou J, Hurley TD, Weiner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10631996", "url": "https://glygen.org/publication/PubMed/10631996" } ] }, { "title": "Regulation of the mammalian alcohol dehydrogenase genes.", "journal": "Progress in nucleic acid research and molecular biology", "date": "2000", "authors": "Edenberg HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10697413", "url": "https://glygen.org/publication/PubMed/10697413" } ] }, { "title": "Retinoid-binding proteins: mediators of retinoid action.", "journal": "The Biochemical journal", "date": "2000", "authors": "Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "10839978", "url": "https://glygen.org/publication/PubMed/10839978" } ] }, { "title": "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Luong A, Hannah VC, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "10843999", "url": "https://glygen.org/publication/PubMed/10843999" } ] }, { "title": "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin M, Napoli JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "11007799", "url": "https://glygen.org/publication/PubMed/11007799" } ] }, { "title": "Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium.", "journal": "Cancer research", "date": "2001", "authors": "Lin B, White JT, Ferguson C, Wang S, Vessella R, Bumgarner R, True LD, Hood L, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "11245473", "url": "https://glygen.org/publication/PubMed/11245473" } ] }, { "title": "Three-dimensional structures of the three human class I alcohol dehydrogenases.", "journal": "Protein Sci.", "date": "2001", "authors": "Niederhut MS, Gibbons BJ, Perez-Miller S, Hurley TD", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "reference": [ { "type": "PubMed", "id": "11274460", "url": "https://glygen.org/publication/PubMed/11274460" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Haeseleer F, Jang GF, Imanishi Y, Driessen CAGG, Matsumura M, Nelson PS, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12226107", "url": "https://glygen.org/publication/PubMed/12226107" } ] }, { "title": "The metabolic activation of abacavir by human liver cytosol and expressed human alcohol dehydrogenase isozymes.", "journal": "Chemico-biological interactions", "date": "2002", "authors": "Walsh JS, Reese MJ, Thurmond LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161541" } ], "reference": [ { "type": "PubMed", "id": "12399160", "url": "https://glygen.org/publication/PubMed/12399160" } ] }, { "title": "Reduction of all-trans-retinal in the mouse liver peroxisome fraction by the short-chain dehydrogenase/reductase RRD: induction by the PPAR alpha ligand clofibrate.", "journal": "Biochemistry", "date": "2003", "authors": "Lei Z, Chen W, Zhang M, Napoli JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "12680773", "url": "https://glygen.org/publication/PubMed/12680773" } ] }, { "title": "Phosphorylation of carbovir enantiomers by cellular enzymes determines the stereoselectivity of antiviral activity.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Miller WH, Daluge SM, Garvey EP, Hopkins S, Reardon JE, Boyd FL, Miller RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2161541", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2161541" } ], "reference": [ { "type": "PubMed", "id": "1383219", "url": "https://glygen.org/publication/PubMed/1383219" } ] }, { "title": "A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Taimi M, Helvig C, Wisniewski J, Ramshaw H, White J, Amad M, Korczak B, Petkovich M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "14532297", "url": "https://glygen.org/publication/PubMed/14532297" } ] }, { "title": "Genomic organization and transcription of the human retinol dehydrogenase 10 (RDH10) gene.", "journal": "FEBS letters", "date": "2003", "authors": "Picozzi P, Marozzi A, Fornasari D, Benfante R, Barisani D, Meneveri R, Ginelli E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "14596915", "url": "https://glygen.org/publication/PubMed/14596915" } ] }, { "title": "Structure of three class I human alcohol dehydrogenases complexed with isoenzyme specific formamide inhibitors.", "journal": "Biochemistry", "date": "2004", "authors": "Gibbons BJ, Hurley TD", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "reference": [ { "type": "PubMed", "id": "15449945", "url": "https://glygen.org/publication/PubMed/15449945" } ] }, { "title": "Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Schwer B, Bunkenborg J, Verdin RO, Andersen JS, Verdin E", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "16788062", "url": 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Isolation via affinity chromatography and characterization of the isozymes.", "journal": "Biochimica et biophysica acta", "date": "1977", "authors": "Greenfield NJ, Pietruszko R", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "18196", "url": "https://glygen.org/publication/PubMed/18196" } ] }, { "title": "Retinoic acid synthesis and signaling during early organogenesis.", "journal": "Cell", "date": "2008", "authors": "Duester G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "18805086", "url": "https://glygen.org/publication/PubMed/18805086" } ] }, { "title": "Cloning and characterization of the human ADH4 gene.", "journal": "Gene", "date": "1991", "authors": "von Bahr-Lindstrom H, Jornvall H, Hoog JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5365859" } ], "reference": [ { "type": "PubMed", "id": "1889753", "url": "https://glygen.org/publication/PubMed/1889753" } ] }, { "title": "Purification and characterization of a new alcohol dehydrogenase from human stomach.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Moreno A, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "1985938", "url": "https://glygen.org/publication/PubMed/1985938" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "P07327", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07327" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Aldehyde dehydrogenase 1B1: molecular cloning and characterization of a novel mitochondrial acetaldehyde-metabolizing enzyme.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2010", "authors": "Stagos D, Chen Y, Brocker C, Donald E, Jackson BC, Orlicky DJ, Thompson DC, Vasiliou V", "evidence": [ { "database": "Reactome", "id": "R-HSA-71384", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71384" } ], "reference": [ { "type": "PubMed", "id": "20616185", "url": "https://glygen.org/publication/PubMed/20616185" } ] }, { "title": "Retinol dehydrogenases (RDHs) in the visual cycle.", "journal": "Experimental eye research", "date": "2010", "authors": "Parker RO, Crouch RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5365859", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "ethanol oxidation", "id": "GO:0006069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006069", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" }, { "name": "alcohol metabolic process", "id": "GO:0006066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006066", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "P07327", "url": "https://www.uniprot.org/uniprot/P07327" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 301, "end_pos": 303, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10736", "name": "", "equation": "a primary alcohol + NAD(+) = an aldehyde + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06757-1", "P12711-1", "P41682-1", "Q5XI95-1", "P00326-1", "P11766-1", "P40394-1", "P07327-1", "P28332-1", "P28474-1", "Q64437-1", "P00329-1", "P10127-1", "P32771-1", "P00330-1", "P00331-1", "P07246-1", "P38113-1", "Q54TC2-1", "P46415-1", "Q9I7R3-1", "P00334-1" ], "evidence": [ { "id": "10736", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10736" } ] }, { "id": "10740", "name": "", "equation": "a secondary alcohol + NAD(+) = a ketone + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06757-1", "P12711-1", "Q5XI95-1", "P11766-1", "P07327-1", "P28332-1", "P28474-1", "P00329-1", "P32771-1", "P00330-1", "P00331-1", "P07246-1", "P38113-1", "Q54TC2-1", "P46415-1", "Q9I7R3-1", "P00334-1" ], "evidence": [ { "id": "10740", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10740" } ] }, { "id": "33199", "name": "", "equation": "butan-1-ol + NAD(+) = butanal + H(+) + NADH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07327-1", "P00330-1", "P00331-1", "P07246-1" ], "evidence": [ { "id": "33199", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/33199" } ] }, { "id": "50704", "name": "", "equation": "1-propanol + NAD(+) = H(+) + NADH + propanal", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07327-1", "P00330-1" ], "evidence": [ { "id": "50704", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50704" } ] }, { "id": "R-HSA-2162078", "name": "abacavir + 2 NAD+ => abacavir 5'-carboxylate + 2 NADH + 2 H+", "equation": "", "summary": "Cytosolic ADH alpha dimer catalyzes the reaction of abacavir and NAD to form abacavir 5'-carboxylate and NADH + H+. Abacavir 5'-carboxylate is one of the major forms in which abacavir is excreted from the body. Studies with purified enzymes in vitro indicate that only the alpha isoform of ADH has this activity. These studies also suggest that the reaction proceeds in two steps via an unstable aldehyde intermediate (Walsh et al. 2002). Whether conversion of the aldehyde to the carboxylate is spontaneous or also catalyzed by ADH has not been established.", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-2161185" ], "output_participant_list": [ "R-ALL-2162081" ], "enzyme_list": [ "P07327-1" ], "evidence": [ { "id": "R-HSA-2162078", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2162078" } ] }, { "id": "R-HSA-5362564", "name": "ADH1A,1C,4 oxidise atROL to atRAL in vitro", "equation": "", "summary": "Some alcohol dehydrogenases (ADHs) utilise NAD+ as cofactor to reversibly oxidise all-trans-retinol (atROL) to all-trans-retinal (atRAL), a retinoid aldehyde, in vitro (von Bahr-Lindstrom et al. 1986, Ikuta et al. 1986, von Bahr-Lindstrom et al. 1991, Xie et al. 1997). ADH1A (ADH1) and ADH4 have high activity and ADH1C (ADH3) has low activity with non-physiological amounts of retinol in vitro. ADH1A and ADH1C metabolize toxic amounts of retinol in vivo, but ADH4 does not. Physiological contributions of ADHs to retinol metabolism have not been demonstrated, in contrast to RDHs.;", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08319-1", "P00326-1", "P07327-1" ], "evidence": [ { "id": "R-HSA-5362564", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5362564" } ] }, { "id": "R-HSA-71707", "name": "ethanol + NAD+ => acetaldehyde + NADH + H+", "equation": "", "summary": "Cytosolic alcohol dehydrogenase catalyzes the reaction of ethanol and NAD+ to form acetaldehyde and NADH + H+. The active form of the enzyme is a dimer with one zinc ion bound to each protein subunit. In the body, alcohol dehydrogenase is present in the liver, kidney, lung and gastric mucosa.

Six genes encode proteins active in ethanol oxidation: ADH1A, ADH1B, ADH1C, ADH4, ADH6, and ADH7 (Lange et al. 1976; Yin et al. 1985; Li et al. 1978; Bosron et al. 1979; Moreno and Pares 1991; Yokoyama et al. 1994; Chen and Yoshida 1991). ADH1A, B and C proteins can associate to form homodimers or heterodimers; ADH4, 6, and 7 proteins each form homodimers. Expression of ADH1A, B and C is developmentally regulated: ADH1A protein is abundant in the fetus, but expressed only at low levels in adulthood, when ADH1B and C proteins are abundant (Edenberg 2000). The various dimers differ substantially in the efficiency with which they oxidize ethanol. The ADH1B homodimer and heterodimers containing at least one 1B monomer are the most active towards ethanol (Yin et al. 1985). In addition, common polymorphic variants of ADH1B and C proteins differ substantially in this respect (Murray and Price 1972).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-30203" ], "output_participant_list": [], "enzyme_list": [ "P08319-1", "P40394-1", "P00325-1", "P00326-1", "P07327-1", "P28332-1" ], "evidence": [ { "id": "R-HSA-71707", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71707" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2161185", "participant_name": "abacavir [cytosol]", "crossref": [ { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" }, { "id": "11152", "database": "Guide to Pharmacology", "url": "" }, { "id": "421707", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-2162081", "participant_name": "abacavir 5'-carboxylic acid [cytosol]", "crossref": [ { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" }, { "id": "64192", "database": "ChEBI", "url": "" }, { "id": "000065733835", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-30203", "participant_name": "EtOH [cytosol]", "crossref": [ { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "16236", "database": "ChEBI", "url": "" }, { "id": "HMDB0000108", "database": "HMDB Metabolite", "url": "" }, { "id": "2299", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145680", "database": "PubChem Substance", "url": "" }, { "id": "C00469", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P00325", "gene_name": "ADH1B", "activity": [ { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "P00325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00325" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "P00325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00325" } ] } ] }, { "uniprot_ac": "P00326", "gene_name": "ADH1C", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00326", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00326" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00326", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00326" } ] } ] }, { "uniprot_ac": "P00329", "gene_name": "Adh1", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00329" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00329", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00329" } ] } ] }, { "uniprot_ac": "P00330", "gene_name": "ADH1", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.54", "activity": "allyl alcohol + NADP(+) = acrolein + H(+) + NADPH.", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.78", "activity": "(R)-lactaldehyde + NAD(+) = H(+) + methylglyoxal + NADH.", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.54", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] }, { "ec_number": "1.1.1.78", "activity": "", "evidence": [ { "id": "P00330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00330" } ] } ] }, { "uniprot_ac": "P00331", "gene_name": "ADH2", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00331" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00331" } ] } ] }, { "uniprot_ac": "P00334", "gene_name": "Adh", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P00334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00334" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P00334", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00334" } ] } ] }, { "uniprot_ac": "P06757", "gene_name": "Adh1", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P06757", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06757" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P06757", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06757" } ] } ] }, { "uniprot_ac": "P07246", "gene_name": "ADH3", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P07246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07246" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P07246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07246" } ] } ] }, { "uniprot_ac": "P07327", "gene_name": "ADH1A", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P07327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07327" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P07327", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07327" } ] } ] }, { "uniprot_ac": "P08319", "gene_name": "ADH4", "activity": [ { "ec_number": "1.1.1.105", "activity": "all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH.", "evidence": [ { "id": "P08319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08319" } ] }, { "ec_number": "1.1.1.105", "activity": "", "evidence": [ { "id": "P08319", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08319" } ] } ] }, { "uniprot_ac": "P10127", "gene_name": "ADH4", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P10127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10127" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P10127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10127" } ] } ] }, { "uniprot_ac": "P11766", "gene_name": "ADH5", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.284", "activity": "NADP(+) + S-(hydroxymethyl)glutathione = H(+) + NADPH + S-formylglutathione.", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P11766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11766" } ] } ] }, { "uniprot_ac": "P12711", "gene_name": "Adh5", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": "1.1.1.284", "activity": "NADP(+) + S-(hydroxymethyl)glutathione = H(+) + NADPH + S-formylglutathione.", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": "1.1.1.1", "activity": "", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] }, { "ec_number": "1.1.1.284", "activity": "", "evidence": [ { "id": "P12711", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12711" } ] } ] }, { "uniprot_ac": "P28332", "gene_name": "ADH6", "activity": [ { "ec_number": "1.1.1.1", "activity": "ethanol + NAD(+) = acetaldehyde + H(+) + NADH.", "evidence": [ { "id": 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