{ "uniprot_canonical_ac": "Q6NVY1-1", "uniprot_ac": "Q6NVY1", "uniprot_id": "HIBCH_HUMAN", "mass": { "chemical_mass": 43482.0, "monoisotopic_mass": 43482.0 }, "refseq": { "ac": "NP_055177", "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor", "summary": "This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, "gene_names": [ { "name": "HIBCH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6NVY1", "id": "Q6NVY1" }, { "name": "HIBCH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177", "id": "NP_055177" }, { "name": "HIBYLCOAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177", "id": "NP_055177" } ], "protein_names": [ { "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6NVY1" }, { "name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177", "id": "NP_055177" }, { "name": "3-hydroxyisobutyryl-Coenzyme A hydrolase; 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIB-CoA hydrolase; HIBYL-CoA-H; testicular tissue protein Li 86", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177", "id": "NP_055177" }, { "name": "3-hydroxyisobutyryl-coenzyme A hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6NVY1" }, { "name": "3.1.2.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6NVY1" }, { "name": "HIB-CoA hydrolase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6NVY1" }, { "name": "HIBYL-CoA-H", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6NVY1" } ], "function": [ { "annotation": "A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "31203192", "url": "https://glygen.org/publication/PubMed/31203192" } ] }, { "annotation": "Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "32677093", "url": "https://glygen.org/publication/PubMed/32677093" } ] }, { "annotation": "Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.", "evidence": [ { "database": "UniProtKB", "id": "B8ZZZ0", "url": "https://www.uniprot.org/uniprot/B8ZZZ0#function" }, { "database": "UniProtKB", "id": "ARBA00024871", "url": "https://www.uniprot.org/uniprot/ARBA00024871#function" }, { "database": "UniProtKB", "id": "H7C1A5", "url": "https://www.uniprot.org/uniprot/H7C1A5#function" }, { "database": "UniProtKB", "id": "Q6NVY1", "url": "https://www.uniprot.org/uniprot/Q6NVY1#function" }, { "database": "PubMed", "id": "8824301", "url": "https://glygen.org/publication/PubMed/8824301" }, { "database": "UniProtKB", "id": "F8W8A6", "url": "https://www.uniprot.org/uniprot/F8W8A6#function" }, { "database": "UniProtKB", "id": "B9A058", "url": "https://www.uniprot.org/uniprot/B9A058#function" } ] }, { "annotation": "Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing.", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "17160907", "url": "https://glygen.org/publication/PubMed/17160907" } ] }, { "annotation": "Novel (founder) mutation in HIBCH that causes a mild phenotype, allowing survival into adulthood.", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "27400804", "url": "https://glygen.org/publication/PubMed/27400804" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Polymorphism in HIBCH is associated with HIBCH deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "27132595", "url": "https://glygen.org/publication/PubMed/27132595" } ] }, { "annotation": "The present study identified HIBCH as a critical enzyme of valine catabolism in colorectal cancer progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" }, { "database": "PubMed", "id": "31409769", "url": "https://glygen.org/publication/PubMed/31409769" } ] }, { "annotation": "This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177" } ] } ], "disease": [ { "disease_id": "MONDO:0009603", "recommended_name": { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency", "description": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established." }, "synonyms": [ { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "3-hydroxyisobutryl-CoA hydrolase deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "3-hydroxyisobutyryl-CoA hydrolase deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "HIBCH deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "methacrylic aciduria", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "Beta-hydroxyisobutyryl-CoA deacylase deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "HIBCHD", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "beta-hydroxyisobutyryl Coa deacylase deficiency", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "methacrylic acid toxicity", "description": "" }, { "id": "MONDO:0009603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009603", "name": "valine metabolic defect", "description": "" }, { "id": "MIM:250620", "resource": "MIM", "url": "https://www.omim.org/entry/250620", "name": "3-hydroxyisobutryl-CoA hydrolase deficiency", "description": "3-hydroxyisobutryl-CoA hydrolase deficiency" } ], "evidence": [ { "id": "250620", "database": "MIM", "url": "https://www.omim.org/entry/250620" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198130", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198130" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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 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"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", 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"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 - 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"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", 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"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", 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"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": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "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": "Q6NVY1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6NVY1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Classification" ] }, { "id": "Q6NVY1", "url": "https://pharos.nih.gov/targets/Q6NVY1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q6NVY1", "url": "http://purl.obolibrary.org/obo/PR_Q6NVY1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_055177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055177", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "20888", "url": "https://www.rhea-db.org/rhea/20888", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "B8ZZZ0", "url": "https://www.uniprot.org/uniprot/B8ZZZ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZZ0-1", "url": "https://www.uniprot.org/uniprot/B8ZZZ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B9A058", "url": "https://www.uniprot.org/uniprot/B9A058", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B9A058-1", "url": "https://www.uniprot.org/uniprot/B9A058-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W8A6", "url": "https://www.uniprot.org/uniprot/F8W8A6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W8A6-1", "url": "https://www.uniprot.org/uniprot/F8W8A6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYI7", "url": "https://www.uniprot.org/uniprot/H7BYI7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYI7-1", "url": "https://www.uniprot.org/uniprot/H7BYI7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C126", "url": "https://www.uniprot.org/uniprot/H7C126", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C126-1", "url": "https://www.uniprot.org/uniprot/H7C126-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1A5", "url": "https://www.uniprot.org/uniprot/H7C1A5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C1A5-1", "url": "https://www.uniprot.org/uniprot/H7C1A5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6NVY1", "url": "https://www.uniprot.org/uniprot/Q6NVY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6NVY1-1", "url": "https://www.uniprot.org/uniprot/Q6NVY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6NVY1-2", "url": "https://www.uniprot.org/uniprot/Q6NVY1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF", "length": 386, "header": "sp|Q6NVY1-1|HIBCH_HUMAN Isoform 1 of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=2 CANONICAL=Q6NVY1-1" }, "isoforms": [ { "isoform_ac": "B8ZZZ0-1", "url": "", "sequence": { "sequence": "MPGMPGRARPGAASLPGQGPRRPARRGEEPSRRHRLTYPRRGDGARRSPARAPDPRRRGSGAGTLWFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDS", "length": 273, "header": "tr|B8ZZZ0-1|B8ZZZ0_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190344188, "end_pos": 190252168, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409934.1", "url": "https://www.ensembl.org/id/ENST00000409934.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000387247.1", "url": "https://www.ensembl.org/id/ENSP00000387247.1" } ] } }, { "isoform_ac": "B9A058-1", "url": "", "sequence": { "sequence": "MLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF", "length": 163, "header": "tr|B9A058-1|HIBCH_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190249720, "end_pos": 190205120, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000410045.5", "url": "https://www.ensembl.org/id/ENST00000410045.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386274.1", "url": "https://www.ensembl.org/id/ENSP00000386274.1" } ] } }, { "isoform_ac": "F8W8A6-1", "url": "", "sequence": { "sequence": "MLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRA", "length": 128, "header": "tr|F8W8A6-1|HIBCH_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190250377, "end_pos": 190208881, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409820.2", "url": "https://www.ensembl.org/id/ENST00000409820.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000387098.2", "url": "https://www.ensembl.org/id/ENSP00000387098.2" } ] } }, { "isoform_ac": "H7BYI7-1", "url": "", "sequence": { "sequence": "XISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGDCSLMWVEVISCHDSKENLVTSLH", "length": 69, "header": "tr|H7BYI7-1|H7BYI7_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190290485, "end_pos": 190252235, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392333.7", "url": "https://www.ensembl.org/id/ENST00000392333.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376145.3", "url": "https://www.ensembl.org/id/ENSP00000376145.3" } ] } }, { "isoform_ac": "H7C126-1", "url": "", "sequence": { "sequence": "XLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF", "length": 38, "header": "tr|H7C126-1|HIBCH_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190205232, "end_pos": 190205119, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399855.2", "url": "https://www.ensembl.org/id/ENST00000399855.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000398060.1", "url": "https://www.ensembl.org/id/ENSP00000398060.1" } ] } }, { "isoform_ac": "H7C1A5-1", "url": "", "sequence": { "sequence": "QSKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAGKWQMGTYHFGEMGFVSICC", "length": 119, "header": "tr|H7C1A5-1|HIBCH_HUMAN Computationally mapped isoform of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=1 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190246215, "end_pos": 190208821, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416732.5", "url": "https://www.ensembl.org/id/ENST00000416732.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399263.1", "url": "https://www.ensembl.org/id/ENSP00000399263.1" } ] } }, { "isoform_ac": "Q6NVY1-1", "url": "", "sequence": { "sequence": "MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF", "length": 386, "header": "sp|Q6NVY1-1|HIBCH_HUMAN Isoform 1 of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=2 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190319750, "end_pos": 190205120, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359678.10", "url": "https://www.ensembl.org/id/ENST00000359678.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352706.5", "url": "https://www.ensembl.org/id/ENSP00000352706.5" } ] } }, { "isoform_ac": "Q6NVY1-2", "url": "", "sequence": { "sequence": "MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMF", "length": 338, "header": "sp|Q6NVY1-2|HIBCH_HUMAN Isoform 2 of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial OS=Homo sapiens OX=9606 GN=HIBCH PE=1 SV=2 CANONICAL=Q6NVY1-1" }, "locus": { "chromosome": "2", "start_pos": 190319750, "end_pos": 190205230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392332.7", "url": "https://www.ensembl.org/id/ENST00000392332.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376144.3", "url": "https://www.ensembl.org/id/ENSP00000376144.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q6NVY1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NVY1" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 234, "end_pos": 234, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6NVY1", "url": "https://www.uniprot.org/uniprot/Q6NVY1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6NVY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NVY1" } ], "site_lbl": "Ser234" }, { "start_pos": 356, "end_pos": 356, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6NVY1", "url": "https://www.uniprot.org/uniprot/Q6NVY1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6NVY1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NVY1" } ], "site_lbl": "Ser356" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "AEvarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10745006", "url": "https://glygen.org/publication/PubMed/10745006" } ] }, { "title": "2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.", "journal": "Pediatric research", "date": "2000", "authors": "Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10832746", "url": "https://glygen.org/publication/PubMed/10832746" } ] }, { "title": "Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.", "journal": "Journal of inherited metabolic disease", "date": "2000", "authors": "Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "10947204", "url": "https://glygen.org/publication/PubMed/10947204" } ] }, { "title": "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.", "journal": "American journal of human genetics", "date": "2000", "authors": "Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11013134", "url": "https://glygen.org/publication/PubMed/11013134" } ] }, { "title": "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.", "journal": "The Journal of clinical investigation", "date": "2001", "authors": "Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11181649", "url": "https://glygen.org/publication/PubMed/11181649" } ] }, { "title": "The structure of human mitochondrial branched-chain aminotransferase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2001", "authors": "Yennawar N, Dunbar J, Conway M, Hutson S, Farber G", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11264579", "url": "https://glygen.org/publication/PubMed/11264579" } ] }, { "title": "Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.", "journal": "Human molecular genetics", "date": "2001", "authors": "Holzinger A, Roschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11406611", "url": "https://glygen.org/publication/PubMed/11406611" } ] }, { "title": "Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Kurimoto K, Fukai S, Nureki O, Muto Y, Yokoyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11738050", "url": "https://glygen.org/publication/PubMed/11738050" } ] }, { "title": "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "11839747", "url": "https://glygen.org/publication/PubMed/11839747" } ] }, { "title": "Crystal structures of human mitochondrial branched chain aminotransferase reaction intermediates: ketimine and pyridoxamine phosphate forms.", "journal": "Biochemistry", "date": "2002", "authors": "Yennawar NH, Conway ME, Yennawar HP, Farber GK, Hutson SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12269802", "url": "https://glygen.org/publication/PubMed/12269802" } ] }, { "title": "Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.", "journal": "Molecular genetics and metabolism", "date": "2002", "authors": "Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12359132", "url": "https://glygen.org/publication/PubMed/12359132" } ] }, { "title": "3-Methylglutaconic aciduria type I is caused by mutations in AUH.", "journal": "American journal of human genetics", "date": "2002", "authors": "IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": "12434311", "url": "https://glygen.org/publication/PubMed/12434311" } ] }, { "title": "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.", "journal": "American journal of human genetics", "date": "2003", "authors": "Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70895", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70895" } ], "reference": [ { "type": "PubMed", "id": 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